AustralieFrV1, Istex, Corpus, bibRecord, 002095

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

Identifieur interne : 002095 ( Istex/Corpus ); précédent : 002094; suivant : 002096

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

Auteurs : Joyce El Hokayem ; Céline Huber ; Adeline Couvé ; Jacqueline Aziza ; Geneviève Baujat ; Raymonde Bouvier ; Denise P. Cavalcanti ; Felicity A. Collins ; Marie-Pierre Cordier ; Anne-Lise Delezoide ; Marie Gonzales ; Diana Johnson ; Martine Le Merrer ; Annie Levy-Mozziconacci ; Philippe Loget ; Dominique Martin-Coignard ; Jelena Martinovic ; Geert R. Mortier ; Marie-José Perez ; Joëlle Roume ; Gioacchino Scarano ; Arnold Munnich ; Valérie Cormier-Daire

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2012-04.

RBID : ISTEX:AD326BD5055068E4006D616F76F15FF0C7398FB3

English descriptors

Abstract

Background The lethal short rib polydactyly syndromes (SRP type I–IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.

Url:

https://api.istex.fr/document/AD326BD5055068E4006D616F76F15FF0C7398FB3/fulltext/pdf

DOI: 10.1136/jmedgenet-2011-100717

Links to Exploration step

ISTEX:AD326BD5055068E4006D616F76F15FF0C7398FB3

Le document en format XML

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<author><name sortKey="El Hokayem, Joyce" sort="El Hokayem, Joyce" uniqKey="El Hokayem J" first="Joyce" last="El Hokayem">Joyce El Hokayem</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
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<author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Céline" last="Huber">Céline Huber</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
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<author><name sortKey="Couve, Adeline" sort="Couve, Adeline" uniqKey="Couve A" first="Adeline" last="Couvé">Adeline Couvé</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Aziza, Jacqueline" sort="Aziza, Jacqueline" uniqKey="Aziza J" first="Jacqueline" last="Aziza">Jacqueline Aziza</name>
<affiliation><mods:affiliation>Laboratoire d'anatomie et cytologie pathologiques, Hôpital Purpan, Toulouse, France</mods:affiliation>
</affiliation>
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<author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
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<author><name sortKey="Bouvier, Raymonde" sort="Bouvier, Raymonde" uniqKey="Bouvier R" first="Raymonde" last="Bouvier">Raymonde Bouvier</name>
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</affiliation>
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<author><name sortKey="Cavalcanti, Denise P" sort="Cavalcanti, Denise P" uniqKey="Cavalcanti D" first="Denise P" last="Cavalcanti">Denise P. Cavalcanti</name>
<affiliation><mods:affiliation>Programa de Genética Perinatal, Departamento de Genética Médica, FCM, UNICAMP, Campinas, São Paulo, Brazil</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Collins, Felicity A" sort="Collins, Felicity A" uniqKey="Collins F" first="Felicity A" last="Collins">Felicity A. Collins</name>
<affiliation><mods:affiliation>Western Sydney Genetics Program, Department of Clinical Genetics, Children's, Hospital at Westmead, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cordier, Marie Pierre" sort="Cordier, Marie Pierre" uniqKey="Cordier M" first="Marie-Pierre" last="Cordier">Marie-Pierre Cordier</name>
<affiliation><mods:affiliation>Service de Génétique, Groupement Hospitalier Est, HFME, Bron, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Delezoide, Anne Lise" sort="Delezoide, Anne Lise" uniqKey="Delezoide A" first="Anne-Lise" last="Delezoide">Anne-Lise Delezoide</name>
<affiliation><mods:affiliation>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, AP-HP, Paris, France</mods:affiliation>
</affiliation>
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<author><name sortKey="Gonzales, Marie" sort="Gonzales, Marie" uniqKey="Gonzales M" first="Marie" last="Gonzales">Marie Gonzales</name>
<affiliation><mods:affiliation>Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, (AP-HP), Université Pierre et Marie Curie - Paris 6, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Johnson, Diana" sort="Johnson, Diana" uniqKey="Johnson D" first="Diana" last="Johnson">Diana Johnson</name>
<affiliation><mods:affiliation>Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundations Trust, Western Bank, England</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Levy Mozziconacci, Annie" sort="Levy Mozziconacci, Annie" uniqKey="Levy Mozziconacci A" first="Annie" last="Levy-Mozziconacci">Annie Levy-Mozziconacci</name>
<affiliation><mods:affiliation>Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Nord, Marseille, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Loget, Philippe" sort="Loget, Philippe" uniqKey="Loget P" first="Philippe" last="Loget">Philippe Loget</name>
<affiliation><mods:affiliation>Centre hospitalier universitaire de Rennes, Service d'anatomie et cytologie pathologiques, Rennes, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Martin Coignard, Dominique" sort="Martin Coignard, Dominique" uniqKey="Martin Coignard D" first="Dominique" last="Martin-Coignard">Dominique Martin-Coignard</name>
<affiliation><mods:affiliation>Pôle de biopathologie, UF 3162, Centre hospitalier, Le Mans, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name>
<affiliation><mods:affiliation>Unit of Fetal Pathology, Cerba Laboratory, Cergy Pontoise</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R" last="Mortier">Geert R. Mortier</name>
<affiliation><mods:affiliation>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name>
<affiliation><mods:affiliation>Département Génétique Médicale, Arnaud de Villeneuve Hospital, Montpellier, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joëlle" last="Roume">Joëlle Roume</name>
<affiliation><mods:affiliation>Service de génétique médicale, centre hospitalier Poissy-Saint-Germain, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name>
<affiliation><mods:affiliation>Department of Medical Genetics, Sannio University, Benevento, Italy</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>E-mail: valerie.cormier-daire@inserm.fr</mods:affiliation>
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<sourceDesc><biblStruct><analytic><title level="a">NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases</title>
<author><name sortKey="El Hokayem, Joyce" sort="El Hokayem, Joyce" uniqKey="El Hokayem J" first="Joyce" last="El Hokayem">Joyce El Hokayem</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Céline" last="Huber">Céline Huber</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Couve, Adeline" sort="Couve, Adeline" uniqKey="Couve A" first="Adeline" last="Couvé">Adeline Couvé</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Aziza, Jacqueline" sort="Aziza, Jacqueline" uniqKey="Aziza J" first="Jacqueline" last="Aziza">Jacqueline Aziza</name>
<affiliation><mods:affiliation>Laboratoire d'anatomie et cytologie pathologiques, Hôpital Purpan, Toulouse, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Bouvier, Raymonde" sort="Bouvier, Raymonde" uniqKey="Bouvier R" first="Raymonde" last="Bouvier">Raymonde Bouvier</name>
<affiliation><mods:affiliation>Centre de pathologie EST, Hôpital Louis Pradel, Hôpital Pierre Wertheimer, Hôpital Femme Mère enfant, Lyon, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cavalcanti, Denise P" sort="Cavalcanti, Denise P" uniqKey="Cavalcanti D" first="Denise P" last="Cavalcanti">Denise P. Cavalcanti</name>
<affiliation><mods:affiliation>Programa de Genética Perinatal, Departamento de Genética Médica, FCM, UNICAMP, Campinas, São Paulo, Brazil</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Collins, Felicity A" sort="Collins, Felicity A" uniqKey="Collins F" first="Felicity A" last="Collins">Felicity A. Collins</name>
<affiliation><mods:affiliation>Western Sydney Genetics Program, Department of Clinical Genetics, Children's, Hospital at Westmead, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cordier, Marie Pierre" sort="Cordier, Marie Pierre" uniqKey="Cordier M" first="Marie-Pierre" last="Cordier">Marie-Pierre Cordier</name>
<affiliation><mods:affiliation>Service de Génétique, Groupement Hospitalier Est, HFME, Bron, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Delezoide, Anne Lise" sort="Delezoide, Anne Lise" uniqKey="Delezoide A" first="Anne-Lise" last="Delezoide">Anne-Lise Delezoide</name>
<affiliation><mods:affiliation>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gonzales, Marie" sort="Gonzales, Marie" uniqKey="Gonzales M" first="Marie" last="Gonzales">Marie Gonzales</name>
<affiliation><mods:affiliation>Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, (AP-HP), Université Pierre et Marie Curie - Paris 6, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Johnson, Diana" sort="Johnson, Diana" uniqKey="Johnson D" first="Diana" last="Johnson">Diana Johnson</name>
<affiliation><mods:affiliation>Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundations Trust, Western Bank, England</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Levy Mozziconacci, Annie" sort="Levy Mozziconacci, Annie" uniqKey="Levy Mozziconacci A" first="Annie" last="Levy-Mozziconacci">Annie Levy-Mozziconacci</name>
<affiliation><mods:affiliation>Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Nord, Marseille, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Loget, Philippe" sort="Loget, Philippe" uniqKey="Loget P" first="Philippe" last="Loget">Philippe Loget</name>
<affiliation><mods:affiliation>Centre hospitalier universitaire de Rennes, Service d'anatomie et cytologie pathologiques, Rennes, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Martin Coignard, Dominique" sort="Martin Coignard, Dominique" uniqKey="Martin Coignard D" first="Dominique" last="Martin-Coignard">Dominique Martin-Coignard</name>
<affiliation><mods:affiliation>Pôle de biopathologie, UF 3162, Centre hospitalier, Le Mans, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name>
<affiliation><mods:affiliation>Unit of Fetal Pathology, Cerba Laboratory, Cergy Pontoise</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R" last="Mortier">Geert R. Mortier</name>
<affiliation><mods:affiliation>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Perez, Marie Jose" sort="Perez, Marie Jose" uniqKey="Perez M" first="Marie-José" last="Perez">Marie-José Perez</name>
<affiliation><mods:affiliation>Département Génétique Médicale, Arnaud de Villeneuve Hospital, Montpellier, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joëlle" last="Roume">Joëlle Roume</name>
<affiliation><mods:affiliation>Service de génétique médicale, centre hospitalier Poissy-Saint-Germain, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name>
<affiliation><mods:affiliation>Department of Medical Genetics, Sannio University, Benevento, Italy</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation><mods:affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>E-mail: valerie.cormier-daire@inserm.fr</mods:affiliation>
</affiliation>
</author>
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<series><title level="j">Journal of Medical Genetics</title>
<title level="j" type="abbrev">J Med Genet</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormality</term>
<term>Agenesis</term>
<term>Ciliopathy spectrum</term>
<term>Cleft ovoid radii</term>
<term>Clinical details</term>
<term>Coding exons</term>
<term>Common mesenterium</term>
<term>Compound heterozygosity</term>
<term>Consanguineous</term>
<term>Consanguineous families</term>
<term>Control chromosomes</term>
<term>Corpus callosum agenesis</term>
<term>Cyst</term>
<term>Cytologie pathologiques</term>
<term>Damaging role</term>
<term>Diagnosis criteria</term>
<term>Frameshift mutation</term>
<term>France france</term>
<term>Genet</term>
<term>Genetics</term>
<term>Gingival hamartoma</term>
<term>Hamartoma</term>
<term>Heart defect</term>
<term>Homozygous state</term>
<term>Hopital</term>
<term>Hopital necker</term>
<term>Intestinal malrotation</term>
<term>Kidney cysts</term>
<term>Kinase</term>
<term>Lobulated tongue</term>
<term>Locus</term>
<term>Malformed epiglottis</term>
<term>Malrotation</term>
<term>Medical genetics</term>
<term>Minor differences</term>
<term>Missense</term>
<term>Missense mutation</term>
<term>Missense mutations</term>
<term>Molecular screening</term>
<term>Mutation</term>
<term>Narrow thorax</term>
<term>Nek1</term>
<term>Nek1 locus</term>
<term>Nek1 mutations</term>
<term>Nonsense mutation</term>
<term>Other features</term>
<term>Ovoid</term>
<term>Ovoid tibia</term>
<term>Ovoid tibiae</term>
<term>Polydactyly</term>
<term>Polydactyly syndrome</term>
<term>Polysyndactyly</term>
<term>Postaxial</term>
<term>Postaxial polydactyly</term>
<term>Postaxial polysyndactyly</term>
<term>Preaxial postaxial</term>
<term>Prediction programme</term>
<term>Radiological features</term>
<term>Recurrent sibs</term>
<term>Regions encoding</term>
<term>Renal cysts</term>
<term>Retrognathia</term>
<term>Short ribs</term>
<term>Short syndrome</term>
<term>Short tibia</term>
<term>Skeletal manifestations</term>
<term>Smooth ends</term>
<term>Sorbonne paris</term>
<term>Syndrome</term>
<term>Tibia</term>
<term>Tibia agenesis</term>
<term>Tibial agenesis</term>
<term>Type cases</term>
<term>Type ieiv</term>
<term>Universite paris descartes</term>
<term>Unknown preaxial postaxial</term>
<term>Week gestation</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Abnormality</term>
<term>Agenesis</term>
<term>Ciliopathy spectrum</term>
<term>Cleft ovoid radii</term>
<term>Clinical details</term>
<term>Coding exons</term>
<term>Common mesenterium</term>
<term>Compound heterozygosity</term>
<term>Consanguineous</term>
<term>Consanguineous families</term>
<term>Control chromosomes</term>
<term>Corpus callosum agenesis</term>
<term>Cyst</term>
<term>Cytologie pathologiques</term>
<term>Damaging role</term>
<term>Diagnosis criteria</term>
<term>Frameshift mutation</term>
<term>France france</term>
<term>Genet</term>
<term>Genetics</term>
<term>Gingival hamartoma</term>
<term>Hamartoma</term>
<term>Heart defect</term>
<term>Homozygous state</term>
<term>Hopital</term>
<term>Hopital necker</term>
<term>Intestinal malrotation</term>
<term>Kidney cysts</term>
<term>Kinase</term>
<term>Lobulated tongue</term>
<term>Locus</term>
<term>Malformed epiglottis</term>
<term>Malrotation</term>
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<front><div type="abstract">Background The lethal short rib polydactyly syndromes (SRP type I–IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.</div>
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<abstract>Background The lethal short rib polydactyly syndromes (SRP type I–IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.</abstract>
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</persName>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
</author>
<author xml:id="author-0001"><persName><forename type="first">Céline</forename>
<surname>Huber</surname>
</persName>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
</author>
<author xml:id="author-0002"><persName><forename type="first">Adeline</forename>
<surname>Couvé</surname>
</persName>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
</author>
<author xml:id="author-0003"><persName><forename type="first">Jacqueline</forename>
<surname>Aziza</surname>
</persName>
<affiliation>Laboratoire d'anatomie et cytologie pathologiques, Hôpital Purpan, Toulouse, France</affiliation>
</author>
<author xml:id="author-0004"><persName><forename type="first">Geneviève</forename>
<surname>Baujat</surname>
</persName>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
</author>
<author xml:id="author-0005"><persName><forename type="first">Raymonde</forename>
<surname>Bouvier</surname>
</persName>
<affiliation>Centre de pathologie EST, Hôpital Louis Pradel, Hôpital Pierre Wertheimer, Hôpital Femme Mère enfant, Lyon, France</affiliation>
</author>
<author xml:id="author-0006"><persName><forename type="first">Denise P</forename>
<surname>Cavalcanti</surname>
</persName>
<affiliation>Programa de Genética Perinatal, Departamento de Genética Médica, FCM, UNICAMP, Campinas, São Paulo, Brazil</affiliation>
</author>
<author xml:id="author-0007"><persName><forename type="first">Felicity A</forename>
<surname>Collins</surname>
</persName>
<affiliation>Western Sydney Genetics Program, Department of Clinical Genetics, Children's, Hospital at Westmead, Sydney, Australia</affiliation>
</author>
<author xml:id="author-0008"><persName><forename type="first">Marie-Pierre</forename>
<surname>Cordier</surname>
</persName>
<affiliation>Service de Génétique, Groupement Hospitalier Est, HFME, Bron, France</affiliation>
</author>
<author xml:id="author-0009"><persName><forename type="first">Anne-Lise</forename>
<surname>Delezoide</surname>
</persName>
<affiliation>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, AP-HP, Paris, France</affiliation>
</author>
<author xml:id="author-0010"><persName><forename type="first">Marie</forename>
<surname>Gonzales</surname>
</persName>
<affiliation>Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, (AP-HP), Université Pierre et Marie Curie - Paris 6, France</affiliation>
</author>
<author xml:id="author-0011"><persName><forename type="first">Diana</forename>
<surname>Johnson</surname>
</persName>
<affiliation>Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundations Trust, Western Bank, England</affiliation>
</author>
<author xml:id="author-0012"><persName><forename type="first">Martine</forename>
<surname>Le Merrer</surname>
</persName>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
</author>
<author xml:id="author-0013"><persName><forename type="first">Annie</forename>
<surname>Levy-Mozziconacci</surname>
</persName>
<affiliation>Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Nord, Marseille, France</affiliation>
</author>
<author xml:id="author-0014"><persName><forename type="first">Philippe</forename>
<surname>Loget</surname>
</persName>
<affiliation>Centre hospitalier universitaire de Rennes, Service d'anatomie et cytologie pathologiques, Rennes, France</affiliation>
</author>
<author xml:id="author-0015"><persName><forename type="first">Dominique</forename>
<surname>Martin-Coignard</surname>
</persName>
<affiliation>Pôle de biopathologie, UF 3162, Centre hospitalier, Le Mans, France</affiliation>
</author>
<author xml:id="author-0016"><persName><forename type="first">Jelena</forename>
<surname>Martinovic</surname>
</persName>
<affiliation>Unit of Fetal Pathology, Cerba Laboratory, Cergy Pontoise</affiliation>
</author>
<author xml:id="author-0017"><persName><forename type="first">Geert R</forename>
<surname>Mortier</surname>
</persName>
<affiliation>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium</affiliation>
</author>
<author xml:id="author-0018"><persName><forename type="first">Marie-José</forename>
<surname>Perez</surname>
</persName>
<affiliation>Département Génétique Médicale, Arnaud de Villeneuve Hospital, Montpellier, France</affiliation>
</author>
<author xml:id="author-0019"><persName><forename type="first">Joëlle</forename>
<surname>Roume</surname>
</persName>
<affiliation>Service de génétique médicale, centre hospitalier Poissy-Saint-Germain, France</affiliation>
</author>
<author xml:id="author-0020"><persName><forename type="first">Gioacchino</forename>
<surname>Scarano</surname>
</persName>
<affiliation>Department of Medical Genetics, Sannio University, Benevento, Italy</affiliation>
</author>
<author xml:id="author-0021"><persName><forename type="first">Arnold</forename>
<surname>Munnich</surname>
</persName>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
</author>
<author xml:id="author-0022" corresp="yes"><persName><forename type="first">Valérie</forename>
<surname>Cormier-Daire</surname>
</persName>
<email>valerie.cormier-daire@inserm.fr</email>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
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<abstract><p>Background The lethal short rib polydactyly syndromes (SRP type I–IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.</p>
</abstract>
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<item><term>SRP II</term>
</item>
<item><term>SRP IV</term>
</item>
<item><term>NEK1</term>
</item>
<item><term>DYNC2H1</term>
</item>
<item><term>ciliopathy group</term>
</item>
<item><term>genetic heterogeneity</term>
</item>
<item><term>genetics</term>
</item>
<item><term>aneuploidy</term>
</item>
<item><term>cytogenetics</term>
</item>
<item><term>clinical genetics</term>
</item>
<item><term>calcium and bone</term>
</item>
<item><term>chromosomal</term>
</item>
<item><term>molecular genetics</term>
</item>
<item><term>diagnosis</term>
</item>
<item><term>congenital heart disease</term>
</item>
<item><term>congenital heart disease</term>
</item>
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<abbrev-journal-title abbrev-type="publisher">J Med Genet</abbrev-journal-title>
<abbrev-journal-title>J Med Genet</abbrev-journal-title>
<issn pub-type="ppub">0022-2593</issn>
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<article-categories><subj-group subj-group-type="heading"><subject>New loci</subject>
</subj-group>
<series-title>Original article</series-title>
</article-categories>
<title-group><article-title><italic>NEK1</italic>
 and <italic>DYNC2H1</italic>
 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>El Hokayem</surname>
<given-names>Joyce</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Huber</surname>
<given-names>Céline</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Couvé</surname>
<given-names>Adeline</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Aziza</surname>
<given-names>Jacqueline</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Baujat</surname>
<given-names>Geneviève</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bouvier</surname>
<given-names>Raymonde</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cavalcanti</surname>
<given-names>Denise P</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Collins</surname>
<given-names>Felicity A</given-names>
</name>
<xref ref-type="aff" rid="aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cordier</surname>
<given-names>Marie-Pierre</given-names>
</name>
<xref ref-type="aff" rid="aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Delezoide</surname>
<given-names>Anne-Lise</given-names>
</name>
<xref ref-type="aff" rid="aff7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gonzales</surname>
<given-names>Marie</given-names>
</name>
<xref ref-type="aff" rid="aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Johnson</surname>
<given-names>Diana</given-names>
</name>
<xref ref-type="aff" rid="aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Le Merrer</surname>
<given-names>Martine</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Levy-Mozziconacci</surname>
<given-names>Annie</given-names>
</name>
<xref ref-type="aff" rid="aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Loget</surname>
<given-names>Philippe</given-names>
</name>
<xref ref-type="aff" rid="aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Martin-Coignard</surname>
<given-names>Dominique</given-names>
</name>
<xref ref-type="aff" rid="aff12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Martinovic</surname>
<given-names>Jelena</given-names>
</name>
<xref ref-type="aff" rid="aff13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mortier</surname>
<given-names>Geert R</given-names>
</name>
<xref ref-type="aff" rid="aff14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Perez</surname>
<given-names>Marie-José</given-names>
</name>
<xref ref-type="aff" rid="aff15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Roume</surname>
<given-names>Joëlle</given-names>
</name>
<xref ref-type="aff" rid="aff16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Scarano</surname>
<given-names>Gioacchino</given-names>
</name>
<xref ref-type="aff" rid="aff17">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Munnich</surname>
<given-names>Arnold</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author" corresp="yes"><name><surname>Cormier-Daire</surname>
<given-names>Valérie</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>1</label>
Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</aff>
<aff id="aff2"><label>2</label>
Laboratoire d'anatomie et cytologie pathologiques, Hôpital Purpan, Toulouse, France</aff>
<aff id="aff3"><label>3</label>
Centre de pathologie EST, Hôpital Louis Pradel, Hôpital Pierre Wertheimer, Hôpital Femme Mère enfant, Lyon, France</aff>
<aff id="aff4"><label>4</label>
Programa de Genética Perinatal, Departamento de Genética Médica, FCM, UNICAMP, Campinas, São Paulo, Brazil</aff>
<aff id="aff5"><label>5</label>
Western Sydney Genetics Program, Department of Clinical Genetics, Children's, Hospital at Westmead, Sydney, Australia</aff>
<aff id="aff6"><label>6</label>
Service de Génétique, Groupement Hospitalier Est, HFME, Bron, France</aff>
<aff id="aff7"><label>7</label>
Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, AP-HP, Paris, France</aff>
<aff id="aff8"><label>8</label>
Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, (AP-HP), Université Pierre et Marie Curie - Paris 6, France</aff>
<aff id="aff9"><label>9</label>
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundations Trust, Western Bank, England</aff>
<aff id="aff10"><label>10</label>
Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Nord, Marseille, France</aff>
<aff id="aff11"><label>11</label>
Centre hospitalier universitaire de Rennes, Service d'anatomie et cytologie pathologiques, Rennes, France</aff>
<aff id="aff12"><label>12</label>
Pôle de biopathologie, UF 3162, Centre hospitalier, Le Mans, France</aff>
<aff id="aff13"><label>13</label>
Unit of Fetal Pathology, Cerba Laboratory, Cergy Pontoise</aff>
<aff id="aff14"><label>14</label>
Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium</aff>
<aff id="aff15"><label>15</label>
Département Génétique Médicale, Arnaud de Villeneuve Hospital, Montpellier, France</aff>
<aff id="aff16"><label>16</label>
Service de génétique médicale, centre hospitalier Poissy-Saint-Germain, France</aff>
<aff id="aff17"><label>17</label>
Department of Medical Genetics, Sannio University, Benevento, Italy</aff>
<author-notes><corresp><label>Correspondence to</label>
 Professor Valérie Cormier-Daire, Department of Genetics, INSERM U781, Hôpital Necker, Université Paris Descartes, Sorbonne Paris Cité, Paris 75015, France; <email>valerie.cormier-daire@inserm.fr</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>4</month>
<year>2012</year>
</pub-date>
<volume>49</volume>
<volume-id pub-id-type="other">49</volume-id>
<volume-id pub-id-type="other">49</volume-id>
<issue>4</issue>
<issue-id pub-id-type="other">jmedgenet;49/4</issue-id>
<issue-id pub-id-type="other">4</issue-id>
<issue-id pub-id-type="other">49/4</issue-id>
<fpage>227</fpage>
<history><date date-type="received"><day>22</day>
<month>12</month>
<year>2011</year>
</date>
<date date-type="accepted"><day>20</day>
<month>2</month>
<year>2012</year>
</date>
</history>
<permissions><copyright-statement>© 2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</copyright-statement>
<copyright-year>2012</copyright-year>
</permissions>
<self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-49-227.pdf"></self-uri>
<abstract><sec><title>Background</title>
<p>The lethal short rib polydactyly syndromes (SRP type I–IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. <italic>NEK1</italic>
 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both <italic>NEK1</italic>
 and <italic>DYNC2H1</italic>
 in one SRP type II case supported possible digenic diallelic inheritance.</p>
</sec>
<sec><title>Methods</title>
<p>The aim of this study was to screen <italic>DYNC2H1</italic>
 and <italic>NEK1</italic>
 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen <italic>DYNC2H1</italic>
 in two patients due to insufficient amount of DNA.</p>
</sec>
<sec><title>Results</title>
<p>The study identified homozygous <italic>NEK1</italic>
 mutations in 5/13 SRP type II and compound heterozygous <italic>DYNC2H1</italic>
 mutations in 4/12 cases. Finally, <italic>NEK1</italic>
 and <italic>DYNC2H1</italic>
 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group.</p>
</sec>
<sec><title>Conclusion</title>
<p>This study confirms that <italic>NEK</italic>
1 is one gene causing SRP type II but also reports mutations in <italic>DYNC2H1</italic>
, expanding the phenotypic spectrum of <italic>DYNC2H1</italic>
 mutations. The exclusion of <italic>NEK1</italic>
 and <italic>DYNC2H1</italic>
 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.</p>
</sec>
</abstract>
<kwd-group><kwd>SRP II</kwd>
<kwd>SRP IV</kwd>
<kwd><italic>NEK1</italic>
</kwd>
<kwd><italic>DYNC2H1</italic>
</kwd>
<kwd>ciliopathy group</kwd>
<kwd>genetic heterogeneity</kwd>
<kwd>genetics</kwd>
<kwd>aneuploidy</kwd>
<kwd>cytogenetics</kwd>
<kwd>clinical genetics</kwd>
<kwd>calcium and bone</kwd>
<kwd>chromosomal</kwd>
<kwd>molecular genetics</kwd>
<kwd>diagnosis</kwd>
<kwd>congenital heart disease</kwd>
<kwd>congenital heart disease</kwd>
</kwd-group>
</article-meta>
</front>
</article>
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<titleInfo type="alternative" contentType="CDATA"><title>NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases</title>
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<name type="personal"><namePart type="given">Joyce</namePart>
<namePart type="family">El Hokayem</namePart>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
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<name type="personal"><namePart type="given">Céline</namePart>
<namePart type="family">Huber</namePart>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Adeline</namePart>
<namePart type="family">Couvé</namePart>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jacqueline</namePart>
<namePart type="family">Aziza</namePart>
<affiliation>Laboratoire d'anatomie et cytologie pathologiques, Hôpital Purpan, Toulouse, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Geneviève</namePart>
<namePart type="family">Baujat</namePart>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Raymonde</namePart>
<namePart type="family">Bouvier</namePart>
<affiliation>Centre de pathologie EST, Hôpital Louis Pradel, Hôpital Pierre Wertheimer, Hôpital Femme Mère enfant, Lyon, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Denise P</namePart>
<namePart type="family">Cavalcanti</namePart>
<affiliation>Programa de Genética Perinatal, Departamento de Genética Médica, FCM, UNICAMP, Campinas, São Paulo, Brazil</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Felicity A</namePart>
<namePart type="family">Collins</namePart>
<affiliation>Western Sydney Genetics Program, Department of Clinical Genetics, Children's, Hospital at Westmead, Sydney, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Marie-Pierre</namePart>
<namePart type="family">Cordier</namePart>
<affiliation>Service de Génétique, Groupement Hospitalier Est, HFME, Bron, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Anne-Lise</namePart>
<namePart type="family">Delezoide</namePart>
<affiliation>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, AP-HP, Paris, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Marie</namePart>
<namePart type="family">Gonzales</namePart>
<affiliation>Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, (AP-HP), Université Pierre et Marie Curie - Paris 6, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Diana</namePart>
<namePart type="family">Johnson</namePart>
<affiliation>Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundations Trust, Western Bank, England</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Martine</namePart>
<namePart type="family">Le Merrer</namePart>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Annie</namePart>
<namePart type="family">Levy-Mozziconacci</namePart>
<affiliation>Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Nord, Marseille, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Philippe</namePart>
<namePart type="family">Loget</namePart>
<affiliation>Centre hospitalier universitaire de Rennes, Service d'anatomie et cytologie pathologiques, Rennes, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Dominique</namePart>
<namePart type="family">Martin-Coignard</namePart>
<affiliation>Pôle de biopathologie, UF 3162, Centre hospitalier, Le Mans, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jelena</namePart>
<namePart type="family">Martinovic</namePart>
<affiliation>Unit of Fetal Pathology, Cerba Laboratory, Cergy Pontoise</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Geert R</namePart>
<namePart type="family">Mortier</namePart>
<affiliation>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Marie-José</namePart>
<namePart type="family">Perez</namePart>
<affiliation>Département Génétique Médicale, Arnaud de Villeneuve Hospital, Montpellier, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Joëlle</namePart>
<namePart type="family">Roume</namePart>
<affiliation>Service de génétique médicale, centre hospitalier Poissy-Saint-Germain, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Gioacchino</namePart>
<namePart type="family">Scarano</namePart>
<affiliation>Department of Medical Genetics, Sannio University, Benevento, Italy</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Arnold</namePart>
<namePart type="family">Munnich</namePart>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal" displayLabel="corresp"><namePart type="given">Valérie</namePart>
<namePart type="family">Cormier-Daire</namePart>
<affiliation>Department of Genetics, INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker, AP-HP, Paris, France</affiliation>
<affiliation>E-mail: valerie.cormier-daire@inserm.fr</affiliation>
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</role>
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<dateIssued encoding="w3cdtf">2012-04</dateIssued>
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<language><languageTerm type="code" authority="iso639-2b">eng</languageTerm>
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<abstract>Background The lethal short rib polydactyly syndromes (SRP type I–IV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.</abstract>
<subject><genre>keywords</genre>
<topic>SRP II</topic>
<topic>SRP IV</topic>
<topic>NEK1</topic>
<topic>DYNC2H1</topic>
<topic>ciliopathy group</topic>
<topic>genetic heterogeneity</topic>
<topic>genetics</topic>
<topic>aneuploidy</topic>
<topic>cytogenetics</topic>
<topic>clinical genetics</topic>
<topic>calcium and bone</topic>
<topic>chromosomal</topic>
<topic>molecular genetics</topic>
<topic>diagnosis</topic>
<topic>congenital heart disease</topic>
<topic>congenital heart disease</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title>
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<titleInfo type="abbreviated"><title>J Med Genet</title>
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<identifier type="ISSN">0022-2593</identifier>
<identifier type="eISSN">1468-6244</identifier>
<identifier type="PublisherID">jmg</identifier>
<identifier type="PublisherID-hwp">jmedgenet</identifier>
<identifier type="PublisherID-nlm-ta">J Med Genet</identifier>
<part><date>2012</date>
<detail type="volume"><caption>vol.</caption>
<number>49</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>4</number>
</detail>
<extent unit="pages"><start>227</start>
</extent>
</part>
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<identifier type="DOI">10.1136/jmedgenet-2011-100717</identifier>
<identifier type="href">jmedgenet-49-227.pdf</identifier>
<identifier type="ArticleID">jmedgenet-2011-100717</identifier>
<identifier type="local">jmedgenet;49/4/227</identifier>
<accessCondition type="use and reproduction" contentType="copyright">© 2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</accessCondition>
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NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

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