AustralieFrV1, Main, Merge, bibRecord, 003966

Further delineation of the KAT6B molecular and phenotypic spectrum

Identifieur interne : 003966 ( Main/Merge ); précédent : 003965; suivant : 003967

Further delineation of the KAT6B molecular and phenotypic spectrum

Auteurs : Tamsin Gannon [Royaume-Uni] ; Rahat Perveen [Royaume-Uni] ; Hélene Schlecht [Royaume-Uni] ; Simon Ramsden [Royaume-Uni] ; Beverley Anderson [Royaume-Uni] ; Bronwyn Kerr [Royaume-Uni] ; Ruth Day [Royaume-Uni] ; Siddharth Banka [Royaume-Uni] ; Mohnish Suri [Royaume-Uni] ; Siren Berland [Norvège] ; Michael Gabbett [Australie] ; Alan Ma [Australie] ; Stan Lyonnet ; Valerie Cormier-Daire ; Rüstem Yilmaz [Allemagne] ; Guntram Borck [Allemagne] ; Dagmar Wieczorek [Allemagne] ; Britt-Marie Anderlid [Suède] ; Sarah Smithson [Royaume-Uni] ; Julie Vogt [Royaume-Uni] ; Heather Moore-Barton [Australie] ; Pelin Ozlem Simsek-Kiper [Turquie] ; Isabelle Maystadt [Belgique] ; Anne Destrée [Belgique] ; Jessica Bucher [États-Unis] ; Brad Angle [États-Unis] ; Shehla Mohammed [Royaume-Uni] ; Emma Wakeling [Royaume-Uni] ; Sue Price [Royaume-Uni] ; Amihood Singer [Israël] ; Yves Sznajer [Belgique] ; Annick Toutain [France] ; Damien Haye [France] ; Ruth Newbury-Ecob [Royaume-Uni] ; Melanie Fradin [France] ; Julie Mcgaughran [Australie] ; Beyhan Tuysuz [Turquie] ; Mark Tein [Royaume-Uni] ; Katelijne Bouman [Pays-Bas] ; Tabib Dabir [Royaume-Uni] ; Jenneke Van Den Ende [Belgique] ; Ho Ming Luk ; Daniela T. Pilz ; Jacqueline Eason [Royaume-Uni] ; Sally Davies ; Willie Reardon [Irlande (pays)] ; Livia Garavelli [Italie] ; Orsetta Zuffardi [Italie] ; Koen Devriendt [Belgique] ; Ruth Armstrong [États-Unis] ; Diana Johnson [Royaume-Uni] ; Martine Doco-Fenzy ; Emilia Bijlsma [Pays-Bas] ; Sheila Unger [Suisse] ; Hermine E. Veenstra-Knol [Pays-Bas] ; Jürgen Kohlhase [Allemagne] ; Ivan Fm Lo ; Janine Smith [Australie] ; Jill Clayton-Smith [Royaume-Uni]

Source :

European Journal of Human Genetics [ 1018-4813 ] ; 2014.

RBID : PMC:4351891

Descripteurs français

English descriptors

Abstract

KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351891

DOI: 10.1038/ejhg.2014.248
PubMed: 25424711
PubMed Central: 4351891

Links to Exploration step

PMC:4351891

Le document en format XML

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<author><name sortKey="Perveen, Rahat" sort="Perveen, Rahat" uniqKey="Perveen R" first="Rahat" last="Perveen">Rahat Perveen</name>
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<author><name sortKey="Schlecht, Helene" sort="Schlecht, Helene" uniqKey="Schlecht H" first="Hélene" last="Schlecht">Hélene Schlecht</name>
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<author><name sortKey="Anderson, Beverley" sort="Anderson, Beverley" uniqKey="Anderson B" first="Beverley" last="Anderson">Beverley Anderson</name>
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<author><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name>
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<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Day, Ruth" sort="Day, Ruth" uniqKey="Day R" first="Ruth" last="Day">Ruth Day</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
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<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Banka, Siddharth" sort="Banka, Siddharth" uniqKey="Banka S" first="Siddharth" last="Banka">Siddharth Banka</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Suri, Mohnish" sort="Suri, Mohnish" uniqKey="Suri M" first="Mohnish" last="Suri">Mohnish Suri</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Clinical Genetics, City Hospital</institution>
, Nottingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Nottingham</wicri:regionArea>
<wicri:noRegion>Nottingham</wicri:noRegion>
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<author><name sortKey="Berland, Siren" sort="Berland, Siren" uniqKey="Berland S" first="Siren" last="Berland">Siren Berland</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital</institution>
, Bergen,<country>Norway</country>
</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gabbett, Michael" sort="Gabbett, Michael" uniqKey="Gabbett M" first="Michael" last="Gabbett">Michael Gabbett</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Genetic Health Queensland and University of Queensland. Royal Brisbane and Women's Hospital, PO Box Herston QLD</institution>
,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ma, Alan" sort="Ma, Alan" uniqKey="Ma A" first="Alan" last="Ma">Alan Ma</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lyonnet, Stan" sort="Lyonnet, Stan" uniqKey="Lyonnet S" first="Stan" last="Lyonnet">Stan Lyonnet</name>
<affiliation><nlm:aff id="aff6"><institution>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR 1163, Imagine Institute, Hôpital Necker Enfants Malades, AP-HP, 24, boulevard de Montparnasse</institution>
,<country>Paris</country>
</nlm:aff>
<wicri:noCountry code="nlm country">Paris</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
<affiliation><nlm:aff id="aff6"><institution>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR 1163, Imagine Institute, Hôpital Necker Enfants Malades, AP-HP, 24, boulevard de Montparnasse</institution>
,<country>Paris</country>
</nlm:aff>
<wicri:noCountry code="nlm country">Paris</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Yilmaz, Rustem" sort="Yilmaz, Rustem" uniqKey="Yilmaz R" first="Rüstem" last="Yilmaz">Rüstem Yilmaz</name>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Institute of Human Genetics, University of Ulm</institution>
, Ulm,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Borck, Guntram" sort="Borck, Guntram" uniqKey="Borck G" first="Guntram" last="Borck">Guntram Borck</name>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Institute of Human Genetics, University of Ulm</institution>
, Ulm,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Institut fur Humangenetik, Universitätsklinikum Essen</institution>
, Essen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Anderlid, Britt Marie" sort="Anderlid, Britt Marie" uniqKey="Anderlid B" first="Britt-Marie" last="Anderlid">Britt-Marie Anderlid</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Institute of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institut and Clinical Genetic Department, Karolinska University Hospital</institution>
, Stockholm,<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Clinical Genetics, University Hospitals, Bristol</institution>
, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Nottingham</wicri:regionArea>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name>
<affiliation wicri:level="3"><nlm:aff id="aff11"><institution>Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust</institution>
, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moore Barton, Heather" sort="Moore Barton, Heather" uniqKey="Moore Barton H" first="Heather" last="Moore-Barton">Heather Moore-Barton</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simsek Kiper, Pelin Ozlem" sort="Simsek Kiper, Pelin Ozlem" uniqKey="Simsek Kiper P" first="Pelin Ozlem" last="Simsek-Kiper">Pelin Ozlem Simsek-Kiper</name>
<affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children's Hospital</institution>
, Ankara,<country>Turkey</country>
</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Maystadt, Isabelle" sort="Maystadt, Isabelle" uniqKey="Maystadt I" first="Isabelle" last="Maystadt">Isabelle Maystadt</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Centre de Génétique Humaine, Institut de Pathologie et de Génétique,</institution>
 Gosselies,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Destree, Anne" sort="Destree, Anne" uniqKey="Destree A" first="Anne" last="Destrée">Anne Destrée</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Centre de Génétique Humaine, Institut de Pathologie et de Génétique,</institution>
 Gosselies,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bucher, Jessica" sort="Bucher, Jessica" uniqKey="Bucher J" first="Jessica" last="Bucher">Jessica Bucher</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Division of Genetics, Birth Defects and Metabolism, Children's Hospital of Chicago, Chicago</institution>
, IL,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Angle, Brad" sort="Angle, Brad" uniqKey="Angle B" first="Brad" last="Angle">Brad Angle</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Division of Genetics, Birth Defects and Metabolism, Children's Hospital of Chicago, Chicago</institution>
, IL,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mohammed, Shehla" sort="Mohammed, Shehla" uniqKey="Mohammed S" first="Shehla" last="Mohammed">Shehla Mohammed</name>
<affiliation wicri:level="3"><nlm:aff id="aff15"><institution>Clinical Genetics, Guys Hospital, Great Maze Pond</institution>
, London</nlm:aff>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<wicri:orgArea>, Birmingham</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Wakeling, Emma" sort="Wakeling, Emma" uniqKey="Wakeling E" first="Emma" last="Wakeling">Emma Wakeling</name>
<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust</institution>
, Harrow, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Harrow</wicri:regionArea>
<wicri:noRegion>Harrow</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Price, Sue" sort="Price, Sue" uniqKey="Price S" first="Sue" last="Price">Sue Price</name>
<affiliation wicri:level="2"><nlm:aff id="aff17"><institution>Clinical Genetics, Northampton General Hospital</institution>
, Cliftonville,<country>Northampton, England</country>
</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>The University of Chicago Medicine, 5841 South Maryland Avenue, MC 2115 Chicago</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Singer, Amihood" sort="Singer, Amihood" uniqKey="Singer A" first="Amihood" last="Singer">Amihood Singer</name>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Paediatrics and Medical Genetics, Barzilai Medical Centre</institution>
, Ashkelon,<country>Israel</country>
</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Center for Human Genetics, Clinique Universitaire St-Luc, Université Catholique de Louvain</institution>
, Brussels,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Service de Génétique, Centre Hospitalier Universitaire</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Haye, Damien" sort="Haye, Damien" uniqKey="Haye D" first="Damien" last="Haye">Damien Haye</name>
<affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Service de Génétique, Centre Hospitalier Universitaire</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Newbury Ecob, Ruth" sort="Newbury Ecob, Ruth" uniqKey="Newbury Ecob R" first="Ruth" last="Newbury-Ecob">Ruth Newbury-Ecob</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Clinical Genetics, University Hospitals, Bristol</institution>
, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Harrow</wicri:regionArea>
<wicri:noRegion>Harrow</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fradin, Melanie" sort="Fradin, Melanie" uniqKey="Fradin M" first="Melanie" last="Fradin">Melanie Fradin</name>
<affiliation wicri:level="1"><nlm:aff id="aff21"><institution>Service de Génétique Medicale CHU Rennes, Université de Rennes</institution>
, Rennes,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mcgaughran, Julie" sort="Mcgaughran, Julie" uniqKey="Mcgaughran J" first="Julie" last="Mcgaughran">Julie Mcgaughran</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Genetic Health Queensland and University of Queensland. Royal Brisbane and Women's Hospital, PO Box Herston QLD</institution>
,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name>
<affiliation wicri:level="1"><nlm:aff id="aff22"><institution>Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University</institution>
, Istanbul,<country>Turkey</country>
</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tein, Mark" sort="Tein, Mark" uniqKey="Tein M" first="Mark" last="Tein">Mark Tein</name>
<affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Clinical Genetics, Birmingham Women's Hospital</institution>
, Birmingha, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Birmingha</wicri:regionArea>
<wicri:noRegion>Birmingha</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bouman, Katelijne" sort="Bouman, Katelijne" uniqKey="Bouman K" first="Katelijne" last="Bouman">Katelijne Bouman</name>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Department of Genetics, University of Groningen, University Medical Centre</institution>
, Groningen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dabir, Tabib" sort="Dabir, Tabib" uniqKey="Dabir T" first="Tabib" last="Dabir">Tabib Dabir</name>
<affiliation wicri:level="2"><nlm:aff id="aff25"><institution>Medical Genetics, Belfast City Hospital</institution>
, Belfast, Northern Ireland</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Irlande du Nord</region>
</placeName>
<wicri:cityArea>, Belfast</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Van Den Ende, Jenneke" sort="Van Den Ende, Jenneke" uniqKey="Van Den Ende J" first="Jenneke" last="Van Den Ende">Jenneke Van Den Ende</name>
<affiliation wicri:level="1"><nlm:aff id="aff26"><institution>Centre For Medical Genetics, Prins Boudewijnlaan 43</institution>
, Edegem,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Luk, Ho Ming" sort="Luk, Ho Ming" uniqKey="Luk H" first="Ho Ming" last="Luk">Ho Ming Luk</name>
<affiliation><nlm:aff id="aff27"><institution>Clinical Genetic Service, Department of Health</institution>
, Hong Kong, China<country></country>
</nlm:aff>
<wicri:noCountry code="# NLM AFF">, Belfast, Northern Ireland</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T" last="Pilz">Daniela T. Pilz</name>
<affiliation><nlm:aff id="aff28"><institution>Institute of Medical Genetics, University Hospital of Wales</institution>
, Cardif, Wales</nlm:aff>
<wicri:noCountry code="subfield">Wales</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Eason, Jacqueline" sort="Eason, Jacqueline" uniqKey="Eason J" first="Jacqueline" last="Eason">Jacqueline Eason</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Clinical Genetics, City Hospital</institution>
, Nottingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Nottingham</wicri:regionArea>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Davies, Sally" sort="Davies, Sally" uniqKey="Davies S" first="Sally" last="Davies">Sally Davies</name>
<affiliation><nlm:aff id="aff28"><institution>Institute of Medical Genetics, University Hospital of Wales</institution>
, Cardif, Wales</nlm:aff>
<wicri:noCountry code="subfield">Wales</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Reardon, Willie" sort="Reardon, Willie" uniqKey="Reardon W" first="Willie" last="Reardon">Willie Reardon</name>
<affiliation wicri:level="1"><nlm:aff id="aff29"><institution>National Centre For Medical Genetics, Our Lady's Hospital For Sick Children</institution>
,<country>Dublin, Ireland</country>
</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>The University of Chicago Medicine, 5841 South Maryland Avenue, MC 2115 Chicago</wicri:regionArea>
<wicri:noRegion>MC 2115 Chicago</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garavelli, Livia" sort="Garavelli, Livia" uniqKey="Garavelli L" first="Livia" last="Garavelli">Livia Garavelli</name>
<affiliation wicri:level="1"><nlm:aff id="aff30"><institution>Clinical Genetics Unit, Obstetric and Pediatric Department, Arcispedale S. Maria Nuova, Istitu di Ricovero e Cura a Carattere Scientifico</institution>
, Reggio, Emilia,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zuffardi, Orsetta" sort="Zuffardi, Orsetta" uniqKey="Zuffardi O" first="Orsetta" last="Zuffardi">Orsetta Zuffardi</name>
<affiliation wicri:level="1"><nlm:aff id="aff31"><institution>Institute of Human Genetics, University of Pavia</institution>
, Pavia,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name>
<affiliation wicri:level="1"><nlm:aff id="aff32"><institution>UZ Leuven, Campus Gasthuisberg</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Armstrong, Ruth" sort="Armstrong, Ruth" uniqKey="Armstrong R" first="Ruth" last="Armstrong">Ruth Armstrong</name>
<affiliation wicri:level="2"><nlm:aff id="aff33"><institution>East Anglian Medical Genetics Service, Addenbrookes Hospital</institution>
, Cambridge, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>, Cambridge, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Johnson, Diana" sort="Johnson, Diana" uniqKey="Johnson D" first="Diana" last="Johnson">Diana Johnson</name>
<affiliation wicri:level="1"><nlm:aff id="aff34"><institution>Department of Clinical Genetics, Sheffield Children's Hospital</institution>
, Sheffield, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Sheffield</wicri:regionArea>
<wicri:noRegion>Sheffield</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Doco Fenzy, Martine" sort="Doco Fenzy, Martine" uniqKey="Doco Fenzy M" first="Martine" last="Doco-Fenzy">Martine Doco-Fenzy</name>
<affiliation><nlm:aff id="aff35"><institution>Service de Génétique, HMB-CHU Reims</institution>
, Reims, France<country></country>
</nlm:aff>
<wicri:noCountry code="# NLM AFF">, Sheffield, UK</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Bijlsma, Emilia" sort="Bijlsma, Emilia" uniqKey="Bijlsma E" first="Emilia" last="Bijlsma">Emilia Bijlsma</name>
<affiliation wicri:level="1"><nlm:aff id="aff36"><institution>Leiden University Medical Centre</institution>
, Leiden,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name>
<affiliation wicri:level="1"><nlm:aff id="aff37"><institution>Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois</institution>
, Lausanne,<country>Switzerland</country>
</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Veenstra Knol, Hermine E" sort="Veenstra Knol, Hermine E" uniqKey="Veenstra Knol H" first="Hermine E" last="Veenstra-Knol">Hermine E. Veenstra-Knol</name>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Department of Genetics, University of Groningen, University Medical Centre</institution>
, Groningen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kohlhase, Jurgen" sort="Kohlhase, Jurgen" uniqKey="Kohlhase J" first="Jürgen" last="Kohlhase">Jürgen Kohlhase</name>
<affiliation wicri:level="1"><nlm:aff id="aff38"><institution>Centre For Human Genetics</institution>
, Freiburg,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lo, Ivan Fm" sort="Lo, Ivan Fm" uniqKey="Lo I" first="Ivan Fm" last="Lo">Ivan Fm Lo</name>
<affiliation><nlm:aff id="aff27"><institution>Clinical Genetic Service, Department of Health</institution>
, Hong Kong, China<country></country>
</nlm:aff>
<wicri:noCountry code="# NLM AFF">, Sheffield, UK</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Smith, Janine" sort="Smith, Janine" uniqKey="Smith J" first="Janine" last="Smith">Janine Smith</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Clayton Smith, Jill" sort="Clayton Smith, Jill" uniqKey="Clayton Smith J" first="Jill" last="Clayton-Smith">Jill Clayton-Smith</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">25424711</idno>
<idno type="pmc">4351891</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351891</idno>
<idno type="RBID">PMC:4351891</idno>
<idno type="doi">10.1038/ejhg.2014.248</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">000719</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000719</idno>
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<idno type="wicri:Area/Pmc/Checkpoint">001580</idno>
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<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">002981</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002981</idno>
<idno type="wicri:Area/PubMed/Curation">002912</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002912</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002912</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002912</idno>
<idno type="wicri:Area/Ncbi/Merge">002015</idno>
<idno type="wicri:Area/Ncbi/Curation">002015</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002015</idno>
<idno type="wicri:doubleKey">1018-4813:2014:Gannon T:further:delineation:of</idno>
<idno type="wicri:Area/Main/Merge">003966</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Further delineation of the KAT6B molecular and phenotypic spectrum</title>
<author><name sortKey="Gannon, Tamsin" sort="Gannon, Tamsin" uniqKey="Gannon T" first="Tamsin" last="Gannon">Tamsin Gannon</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Perveen, Rahat" sort="Perveen, Rahat" uniqKey="Perveen R" first="Rahat" last="Perveen">Rahat Perveen</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schlecht, Helene" sort="Schlecht, Helene" uniqKey="Schlecht H" first="Hélene" last="Schlecht">Hélene Schlecht</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ramsden, Simon" sort="Ramsden, Simon" uniqKey="Ramsden S" first="Simon" last="Ramsden">Simon Ramsden</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Anderson, Beverley" sort="Anderson, Beverley" uniqKey="Anderson B" first="Beverley" last="Anderson">Beverley Anderson</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kerr, Bronwyn" sort="Kerr, Bronwyn" uniqKey="Kerr B" first="Bronwyn" last="Kerr">Bronwyn Kerr</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Day, Ruth" sort="Day, Ruth" uniqKey="Day R" first="Ruth" last="Day">Ruth Day</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Banka, Siddharth" sort="Banka, Siddharth" uniqKey="Banka S" first="Siddharth" last="Banka">Siddharth Banka</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Suri, Mohnish" sort="Suri, Mohnish" uniqKey="Suri M" first="Mohnish" last="Suri">Mohnish Suri</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Clinical Genetics, City Hospital</institution>
, Nottingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Nottingham</wicri:regionArea>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Berland, Siren" sort="Berland, Siren" uniqKey="Berland S" first="Siren" last="Berland">Siren Berland</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital</institution>
, Bergen,<country>Norway</country>
</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gabbett, Michael" sort="Gabbett, Michael" uniqKey="Gabbett M" first="Michael" last="Gabbett">Michael Gabbett</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Genetic Health Queensland and University of Queensland. Royal Brisbane and Women's Hospital, PO Box Herston QLD</institution>
,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ma, Alan" sort="Ma, Alan" uniqKey="Ma A" first="Alan" last="Ma">Alan Ma</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lyonnet, Stan" sort="Lyonnet, Stan" uniqKey="Lyonnet S" first="Stan" last="Lyonnet">Stan Lyonnet</name>
<affiliation><nlm:aff id="aff6"><institution>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR 1163, Imagine Institute, Hôpital Necker Enfants Malades, AP-HP, 24, boulevard de Montparnasse</institution>
,<country>Paris</country>
</nlm:aff>
<wicri:noCountry code="nlm country">Paris</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name>
<affiliation><nlm:aff id="aff6"><institution>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR 1163, Imagine Institute, Hôpital Necker Enfants Malades, AP-HP, 24, boulevard de Montparnasse</institution>
,<country>Paris</country>
</nlm:aff>
<wicri:noCountry code="nlm country">Paris</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Yilmaz, Rustem" sort="Yilmaz, Rustem" uniqKey="Yilmaz R" first="Rüstem" last="Yilmaz">Rüstem Yilmaz</name>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Institute of Human Genetics, University of Ulm</institution>
, Ulm,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Borck, Guntram" sort="Borck, Guntram" uniqKey="Borck G" first="Guntram" last="Borck">Guntram Borck</name>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Institute of Human Genetics, University of Ulm</institution>
, Ulm,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Institut fur Humangenetik, Universitätsklinikum Essen</institution>
, Essen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Anderlid, Britt Marie" sort="Anderlid, Britt Marie" uniqKey="Anderlid B" first="Britt-Marie" last="Anderlid">Britt-Marie Anderlid</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Institute of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institut and Clinical Genetic Department, Karolinska University Hospital</institution>
, Stockholm,<country>Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Smithson, Sarah" sort="Smithson, Sarah" uniqKey="Smithson S" first="Sarah" last="Smithson">Sarah Smithson</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Clinical Genetics, University Hospitals, Bristol</institution>
, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Nottingham</wicri:regionArea>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name>
<affiliation wicri:level="3"><nlm:aff id="aff11"><institution>Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust</institution>
, Birmingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Birmingham</wicri:regionArea>
<placeName><settlement type="city">Birmingham</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Midlands de l'Ouest</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moore Barton, Heather" sort="Moore Barton, Heather" uniqKey="Moore Barton H" first="Heather" last="Moore-Barton">Heather Moore-Barton</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simsek Kiper, Pelin Ozlem" sort="Simsek Kiper, Pelin Ozlem" uniqKey="Simsek Kiper P" first="Pelin Ozlem" last="Simsek-Kiper">Pelin Ozlem Simsek-Kiper</name>
<affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children's Hospital</institution>
, Ankara,<country>Turkey</country>
</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Maystadt, Isabelle" sort="Maystadt, Isabelle" uniqKey="Maystadt I" first="Isabelle" last="Maystadt">Isabelle Maystadt</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Centre de Génétique Humaine, Institut de Pathologie et de Génétique,</institution>
 Gosselies,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Destree, Anne" sort="Destree, Anne" uniqKey="Destree A" first="Anne" last="Destrée">Anne Destrée</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Centre de Génétique Humaine, Institut de Pathologie et de Génétique,</institution>
 Gosselies,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bucher, Jessica" sort="Bucher, Jessica" uniqKey="Bucher J" first="Jessica" last="Bucher">Jessica Bucher</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Division of Genetics, Birth Defects and Metabolism, Children's Hospital of Chicago, Chicago</institution>
, IL,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Angle, Brad" sort="Angle, Brad" uniqKey="Angle B" first="Brad" last="Angle">Brad Angle</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Division of Genetics, Birth Defects and Metabolism, Children's Hospital of Chicago, Chicago</institution>
, IL,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mohammed, Shehla" sort="Mohammed, Shehla" uniqKey="Mohammed S" first="Shehla" last="Mohammed">Shehla Mohammed</name>
<affiliation wicri:level="3"><nlm:aff id="aff15"><institution>Clinical Genetics, Guys Hospital, Great Maze Pond</institution>
, London</nlm:aff>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<wicri:orgArea>, Birmingham</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Wakeling, Emma" sort="Wakeling, Emma" uniqKey="Wakeling E" first="Emma" last="Wakeling">Emma Wakeling</name>
<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>North West Thames Regional Genetics Service, North West London Hospitals NHS Trust</institution>
, Harrow, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Harrow</wicri:regionArea>
<wicri:noRegion>Harrow</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Price, Sue" sort="Price, Sue" uniqKey="Price S" first="Sue" last="Price">Sue Price</name>
<affiliation wicri:level="2"><nlm:aff id="aff17"><institution>Clinical Genetics, Northampton General Hospital</institution>
, Cliftonville,<country>Northampton, England</country>
</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Angleterre</region>
</placeName>
<wicri:cityArea>The University of Chicago Medicine, 5841 South Maryland Avenue, MC 2115 Chicago</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Singer, Amihood" sort="Singer, Amihood" uniqKey="Singer A" first="Amihood" last="Singer">Amihood Singer</name>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Paediatrics and Medical Genetics, Barzilai Medical Centre</institution>
, Ashkelon,<country>Israel</country>
</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Center for Human Genetics, Clinique Universitaire St-Luc, Université Catholique de Louvain</institution>
, Brussels,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Toutain, Annick" sort="Toutain, Annick" uniqKey="Toutain A" first="Annick" last="Toutain">Annick Toutain</name>
<affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Service de Génétique, Centre Hospitalier Universitaire</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Haye, Damien" sort="Haye, Damien" uniqKey="Haye D" first="Damien" last="Haye">Damien Haye</name>
<affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Service de Génétique, Centre Hospitalier Universitaire</institution>
, Tours,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Newbury Ecob, Ruth" sort="Newbury Ecob, Ruth" uniqKey="Newbury Ecob R" first="Ruth" last="Newbury-Ecob">Ruth Newbury-Ecob</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Clinical Genetics, University Hospitals, Bristol</institution>
, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Harrow</wicri:regionArea>
<wicri:noRegion>Harrow</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fradin, Melanie" sort="Fradin, Melanie" uniqKey="Fradin M" first="Melanie" last="Fradin">Melanie Fradin</name>
<affiliation wicri:level="1"><nlm:aff id="aff21"><institution>Service de Génétique Medicale CHU Rennes, Université de Rennes</institution>
, Rennes,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mcgaughran, Julie" sort="Mcgaughran, Julie" uniqKey="Mcgaughran J" first="Julie" last="Mcgaughran">Julie Mcgaughran</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Genetic Health Queensland and University of Queensland. Royal Brisbane and Women's Hospital, PO Box Herston QLD</institution>
,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name>
<affiliation wicri:level="1"><nlm:aff id="aff22"><institution>Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University</institution>
, Istanbul,<country>Turkey</country>
</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tein, Mark" sort="Tein, Mark" uniqKey="Tein M" first="Mark" last="Tein">Mark Tein</name>
<affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Clinical Genetics, Birmingham Women's Hospital</institution>
, Birmingha, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Birmingha</wicri:regionArea>
<wicri:noRegion>Birmingha</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bouman, Katelijne" sort="Bouman, Katelijne" uniqKey="Bouman K" first="Katelijne" last="Bouman">Katelijne Bouman</name>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Department of Genetics, University of Groningen, University Medical Centre</institution>
, Groningen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dabir, Tabib" sort="Dabir, Tabib" uniqKey="Dabir T" first="Tabib" last="Dabir">Tabib Dabir</name>
<affiliation wicri:level="2"><nlm:aff id="aff25"><institution>Medical Genetics, Belfast City Hospital</institution>
, Belfast, Northern Ireland</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Irlande du Nord</region>
</placeName>
<wicri:cityArea>, Belfast</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Van Den Ende, Jenneke" sort="Van Den Ende, Jenneke" uniqKey="Van Den Ende J" first="Jenneke" last="Van Den Ende">Jenneke Van Den Ende</name>
<affiliation wicri:level="1"><nlm:aff id="aff26"><institution>Centre For Medical Genetics, Prins Boudewijnlaan 43</institution>
, Edegem,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Luk, Ho Ming" sort="Luk, Ho Ming" uniqKey="Luk H" first="Ho Ming" last="Luk">Ho Ming Luk</name>
<affiliation><nlm:aff id="aff27"><institution>Clinical Genetic Service, Department of Health</institution>
, Hong Kong, China<country></country>
</nlm:aff>
<wicri:noCountry code="# NLM AFF">, Belfast, Northern Ireland</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T" last="Pilz">Daniela T. Pilz</name>
<affiliation><nlm:aff id="aff28"><institution>Institute of Medical Genetics, University Hospital of Wales</institution>
, Cardif, Wales</nlm:aff>
<wicri:noCountry code="subfield">Wales</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Eason, Jacqueline" sort="Eason, Jacqueline" uniqKey="Eason J" first="Jacqueline" last="Eason">Jacqueline Eason</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Clinical Genetics, City Hospital</institution>
, Nottingham, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Nottingham</wicri:regionArea>
<wicri:noRegion>Nottingham</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Davies, Sally" sort="Davies, Sally" uniqKey="Davies S" first="Sally" last="Davies">Sally Davies</name>
<affiliation><nlm:aff id="aff28"><institution>Institute of Medical Genetics, University Hospital of Wales</institution>
, Cardif, Wales</nlm:aff>
<wicri:noCountry code="subfield">Wales</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Reardon, Willie" sort="Reardon, Willie" uniqKey="Reardon W" first="Willie" last="Reardon">Willie Reardon</name>
<affiliation wicri:level="1"><nlm:aff id="aff29"><institution>National Centre For Medical Genetics, Our Lady's Hospital For Sick Children</institution>
,<country>Dublin, Ireland</country>
</nlm:aff>
<country xml:lang="fr">Irlande (pays)</country>
<wicri:regionArea>The University of Chicago Medicine, 5841 South Maryland Avenue, MC 2115 Chicago</wicri:regionArea>
<wicri:noRegion>MC 2115 Chicago</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garavelli, Livia" sort="Garavelli, Livia" uniqKey="Garavelli L" first="Livia" last="Garavelli">Livia Garavelli</name>
<affiliation wicri:level="1"><nlm:aff id="aff30"><institution>Clinical Genetics Unit, Obstetric and Pediatric Department, Arcispedale S. Maria Nuova, Istitu di Ricovero e Cura a Carattere Scientifico</institution>
, Reggio, Emilia,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zuffardi, Orsetta" sort="Zuffardi, Orsetta" uniqKey="Zuffardi O" first="Orsetta" last="Zuffardi">Orsetta Zuffardi</name>
<affiliation wicri:level="1"><nlm:aff id="aff31"><institution>Institute of Human Genetics, University of Pavia</institution>
, Pavia,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name>
<affiliation wicri:level="1"><nlm:aff id="aff32"><institution>UZ Leuven, Campus Gasthuisberg</institution>
, Leuven,<country>Belgium</country>
</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Armstrong, Ruth" sort="Armstrong, Ruth" uniqKey="Armstrong R" first="Ruth" last="Armstrong">Ruth Armstrong</name>
<affiliation wicri:level="2"><nlm:aff id="aff33"><institution>East Anglian Medical Genetics Service, Addenbrookes Hospital</institution>
, Cambridge, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>, Cambridge, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Johnson, Diana" sort="Johnson, Diana" uniqKey="Johnson D" first="Diana" last="Johnson">Diana Johnson</name>
<affiliation wicri:level="1"><nlm:aff id="aff34"><institution>Department of Clinical Genetics, Sheffield Children's Hospital</institution>
, Sheffield, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Sheffield</wicri:regionArea>
<wicri:noRegion>Sheffield</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Doco Fenzy, Martine" sort="Doco Fenzy, Martine" uniqKey="Doco Fenzy M" first="Martine" last="Doco-Fenzy">Martine Doco-Fenzy</name>
<affiliation><nlm:aff id="aff35"><institution>Service de Génétique, HMB-CHU Reims</institution>
, Reims, France<country></country>
</nlm:aff>
<wicri:noCountry code="# NLM AFF">, Sheffield, UK</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Bijlsma, Emilia" sort="Bijlsma, Emilia" uniqKey="Bijlsma E" first="Emilia" last="Bijlsma">Emilia Bijlsma</name>
<affiliation wicri:level="1"><nlm:aff id="aff36"><institution>Leiden University Medical Centre</institution>
, Leiden,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name>
<affiliation wicri:level="1"><nlm:aff id="aff37"><institution>Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois</institution>
, Lausanne,<country>Switzerland</country>
</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Veenstra Knol, Hermine E" sort="Veenstra Knol, Hermine E" uniqKey="Veenstra Knol H" first="Hermine E" last="Veenstra-Knol">Hermine E. Veenstra-Knol</name>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Department of Genetics, University of Groningen, University Medical Centre</institution>
, Groningen,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kohlhase, Jurgen" sort="Kohlhase, Jurgen" uniqKey="Kohlhase J" first="Jürgen" last="Kohlhase">Jürgen Kohlhase</name>
<affiliation wicri:level="1"><nlm:aff id="aff38"><institution>Centre For Human Genetics</institution>
, Freiburg,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lo, Ivan Fm" sort="Lo, Ivan Fm" uniqKey="Lo I" first="Ivan Fm" last="Lo">Ivan Fm Lo</name>
<affiliation><nlm:aff id="aff27"><institution>Clinical Genetic Service, Department of Health</institution>
, Hong Kong, China<country></country>
</nlm:aff>
<wicri:noCountry code="# NLM AFF">, Sheffield, UK</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Smith, Janine" sort="Smith, Janine" uniqKey="Smith J" first="Janine" last="Smith">Janine Smith</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Department of Clinical Genetics, Children's Hospital at Westmead</institution>
, Sydney,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Clayton Smith, Jill" sort="Clayton Smith, Jill" uniqKey="Clayton Smith J" first="Jill" last="Clayton-Smith">Jill Clayton-Smith</name>
<affiliation wicri:level="3"><nlm:aff id="aff1"><institution>Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre</institution>
, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>, Manchester</wicri:regionArea>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Blepharophimosis (diagnosis)</term>
<term>Blepharophimosis (genetics)</term>
<term>Blepharophimosis (pathology)</term>
<term>Child, Preschool</term>
<term>Congenital Hypothyroidism (diagnosis)</term>
<term>Congenital Hypothyroidism (genetics)</term>
<term>Congenital Hypothyroidism (pathology)</term>
<term>Craniofacial Abnormalities (diagnosis)</term>
<term>Craniofacial Abnormalities (genetics)</term>
<term>Craniofacial Abnormalities (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Exome</term>
<term>Exons</term>
<term>Facies</term>
<term>Female</term>
<term>Gene Expression</term>
<term>Genetic Association Studies</term>
<term>Genotype</term>
<term>Heart Defects, Congenital (diagnosis)</term>
<term>Heart Defects, Congenital (genetics)</term>
<term>Heart Defects, Congenital (pathology)</term>
<term>Histone Acetyltransferases (genetics)</term>
<term>Humans</term>
<term>Intellectual Disability (diagnosis)</term>
<term>Intellectual Disability (genetics)</term>
<term>Intellectual Disability (pathology)</term>
<term>Joint Instability (diagnosis)</term>
<term>Joint Instability (genetics)</term>
<term>Joint Instability (pathology)</term>
<term>Kidney (abnormalities)</term>
<term>Kidney (pathology)</term>
<term>Male</term>
<term>Mutation</term>
<term>Patella (abnormalities)</term>
<term>Patella (pathology)</term>
<term>Phenotype</term>
<term>Psychomotor Disorders (diagnosis)</term>
<term>Psychomotor Disorders (genetics)</term>
<term>Psychomotor Disorders (pathology)</term>
<term>Scrotum (abnormalities)</term>
<term>Scrotum (pathology)</term>
<term>Severity of Illness Index</term>
<term>Urogenital Abnormalities (diagnosis)</term>
<term>Urogenital Abnormalities (genetics)</term>
<term>Urogenital Abnormalities (pathology)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de mutations d'ADN</term>
<term>Blépharophimosis (anatomopathologie)</term>
<term>Blépharophimosis (diagnostic)</term>
<term>Blépharophimosis (génétique)</term>
<term>Cardiopathies congénitales (anatomopathologie)</term>
<term>Cardiopathies congénitales (diagnostic)</term>
<term>Cardiopathies congénitales (génétique)</term>
<term>Diagnostic différentiel</term>
<term>Déficience intellectuelle (anatomopathologie)</term>
<term>Déficience intellectuelle (diagnostic)</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Enfant d'âge préscolaire</term>
<term>Exome</term>
<term>Exons</term>
<term>Expression des gènes</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Histone acetyltransferases (génétique)</term>
<term>Humains</term>
<term>Hypothyroïdie congénitale (anatomopathologie)</term>
<term>Hypothyroïdie congénitale (diagnostic)</term>
<term>Hypothyroïdie congénitale (génétique)</term>
<term>Indice de gravité médicale</term>
<term>Instabilité articulaire (anatomopathologie)</term>
<term>Instabilité articulaire (diagnostic)</term>
<term>Instabilité articulaire (génétique)</term>
<term>Malformations crâniofaciales (anatomopathologie)</term>
<term>Malformations crâniofaciales (diagnostic)</term>
<term>Malformations crâniofaciales (génétique)</term>
<term>Malformations urogénitales (anatomopathologie)</term>
<term>Malformations urogénitales (diagnostic)</term>
<term>Malformations urogénitales (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Patella (anatomopathologie)</term>
<term>Patella (malformations)</term>
<term>Phénotype</term>
<term>Rein (anatomopathologie)</term>
<term>Rein (malformations)</term>
<term>Scrotum (anatomopathologie)</term>
<term>Scrotum (malformations)</term>
<term>Troubles psychomoteurs (anatomopathologie)</term>
<term>Troubles psychomoteurs (diagnostic)</term>
<term>Troubles psychomoteurs (génétique)</term>
<term>Études d'associations génétiques</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Histone Acetyltransferases</term>
</keywords>
<keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Kidney</term>
<term>Patella</term>
<term>Scrotum</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Blépharophimosis</term>
<term>Cardiopathies congénitales</term>
<term>Déficience intellectuelle</term>
<term>Hypothyroïdie congénitale</term>
<term>Instabilité articulaire</term>
<term>Malformations crâniofaciales</term>
<term>Malformations urogénitales</term>
<term>Patella</term>
<term>Rein</term>
<term>Scrotum</term>
<term>Troubles psychomoteurs</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Blepharophimosis</term>
<term>Congenital Hypothyroidism</term>
<term>Craniofacial Abnormalities</term>
<term>Heart Defects, Congenital</term>
<term>Intellectual Disability</term>
<term>Joint Instability</term>
<term>Psychomotor Disorders</term>
<term>Urogenital Abnormalities</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Blépharophimosis</term>
<term>Cardiopathies congénitales</term>
<term>Déficience intellectuelle</term>
<term>Hypothyroïdie congénitale</term>
<term>Instabilité articulaire</term>
<term>Malformations crâniofaciales</term>
<term>Malformations urogénitales</term>
<term>Troubles psychomoteurs</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharophimosis</term>
<term>Congenital Hypothyroidism</term>
<term>Craniofacial Abnormalities</term>
<term>Heart Defects, Congenital</term>
<term>Intellectual Disability</term>
<term>Joint Instability</term>
<term>Psychomotor Disorders</term>
<term>Urogenital Abnormalities</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Blépharophimosis</term>
<term>Cardiopathies congénitales</term>
<term>Déficience intellectuelle</term>
<term>Histone acetyltransferases</term>
<term>Hypothyroïdie congénitale</term>
<term>Instabilité articulaire</term>
<term>Malformations crâniofaciales</term>
<term>Malformations urogénitales</term>
<term>Troubles psychomoteurs</term>
</keywords>
<keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Patella</term>
<term>Rein</term>
<term>Scrotum</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Blepharophimosis</term>
<term>Congenital Hypothyroidism</term>
<term>Craniofacial Abnormalities</term>
<term>Heart Defects, Congenital</term>
<term>Intellectual Disability</term>
<term>Joint Instability</term>
<term>Kidney</term>
<term>Patella</term>
<term>Psychomotor Disorders</term>
<term>Scrotum</term>
<term>Urogenital Abnormalities</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term>
<term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Exome</term>
<term>Exons</term>
<term>Facies</term>
<term>Female</term>
<term>Gene Expression</term>
<term>Genetic Association Studies</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Severity of Illness Index</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term>
<term>Diagnostic différentiel</term>
<term>Enfant d'âge préscolaire</term>
<term>Exome</term>
<term>Exons</term>
<term>Expression des gènes</term>
<term>Faciès</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Humains</term>
<term>Indice de gravité médicale</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Phénotype</term>
<term>Études d'associations génétiques</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en"><p><italic>KAT6B</italic>
 sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of <italic>KAT6B</italic>
. Of those where parental samples could be tested, all occurred <italic>de novo</italic>
. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The <italic>de novo</italic>
 synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that <italic>KAT6B</italic>
 variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than <italic>KAT6B</italic>
 variant-negative patients. The few reported patients with <italic>KAT6B</italic>
 haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the <italic>KAT6B</italic>
 gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.</p>
</div>
</front>
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Further delineation of the KAT6B molecular and phenotypic spectrum

Further delineation of the KAT6B molecular and phenotypic spectrum

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