Delineation of 15q13.3 microdeletions
Identifieur interne : 005570 ( Istex/Curation ); précédent : 005569; suivant : 005571Delineation of 15q13.3 microdeletions
Auteurs : A. Masurel-Paulet ; J. Andrieux ; P. Callier ; Jm Cuisset ; C. Le Caignec ; M. Holder ; C. Thauvin-Robinet ; B. Doray ; E. Flori [France] ; Mp Alex-Cordier [France] ; M. Beri [France] ; O. Boute ; B. Delobel [France] ; A. Dieux ; L. Vallee ; S. Jaillard [France] ; S. Odent [France] ; B. Isidor ; C. Beneteau [France] ; J. Vigneron [France] ; F. Bilan [France] ; B. Gilbert-Dussardier [France] ; C. Dubourg [France] ; A. Labalme [France] ; C. Bidon [France] ; A. Gautier [France] ; P. Pernes [France] ; Jm Pinoit ; F. Huet [France] ; F. Mugneret ; B. Aral [France] ; P. Jonveaux [France] ; D. Sanlaville [France] ; L. Faivre [France]Source :
- Clinical Genetics [ 0009-9163 ] ; 2010-08.
Abstract
Masurel‐Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin‐Robinet C, Doray B, Flori E, Alex‐Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert‐Dussardier B, Dubourg C, Labalme A, Gautier A, Pernes P, Bidon C, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L. Delineation of 15q13.3 microdeletions. The increasing use of array‐comparative genomic hybridization (array‐CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generally present with relatively consistent breakpoints at BP4 and BP5, which include the CHRNA7 gene. About 100 index cases have been reported since the first publication in 2008. This large number of patients ascertained through highly variable samples has been necessary to describe the full phenotypic spectrum of this microdeletion, ranging from mental retardation with dysmorphic features, epilepsy, neuropsychiatric disturbances with or without cognitive impairment to complete absence of anomalies. Here, we describe a collaborative study reporting a new cohort of 12 index patients and 13 relatives carrying a heterozygous BP4–BP5 microdeletion out of a series of 4625 patients screened by array‐CGH for DD. We confirm the clinical expressivity of the disease as well as the incomplete penetrance in seven families. We showed through a review of the literature that males are more likely to be symptomatic. Sequence analysis of CHRNA7 yielded no data to support the unmasking of recessive variants as a cause of phenotypic variability. We also report the first patient carrying a 15q13.3 homozygous microdeletion inherited from both parents. He had severe epileptic encephalopathy with retinopathy, autistic features and choreoathetosis. Besides the classical ∼1.5 Mb BP4–BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene.
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DOI: 10.1111/j.1399-0004.2010.01374.x
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A. Masurel-Paulet<affiliation><mods:affiliation>Centre de Génétique et Centre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d’Enfants, CHU, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation><affiliation><mods:affiliation>Laboratoire de Génétique Médicale, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de cytogénétique, Plateau Technique de Biologie, CHU Le Bocage, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Neuropédiatrie, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Génétique Médicale, CHU, Nantes</mods:affiliation><wicri:noCountry code="subField">Nantes</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Génétique Clinique, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation><affiliation><mods:affiliation>Centre de Génétique et Centre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d’Enfants, CHU, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Génétique Médicale</mods:affiliation><wicri:noCountry code="no comma">Service de Génétique Médicale</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Génétique Clinique, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Génétique Clinique, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Neuropédiatrie, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Génétique Médicale, CHU, Nantes</mods:affiliation><wicri:noCountry code="subField">Nantes</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de Pédopsychiatrie</mods:affiliation><wicri:noCountry code="no comma">Service de Pédopsychiatrie</wicri:noCountry></affiliation><affiliation><mods:affiliation>Service de cytogénétique, Plateau Technique de Biologie, CHU Le Bocage, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation>Le document en format XML
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Beri</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Boute, O" sort="Boute, O" uniqKey="Boute O" first="O" last="Boute">O. Boute</name><affiliation><mods:affiliation>Service de Génétique Clinique, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Delobel, B" sort="Delobel, B" uniqKey="Delobel B" first="B" last="Delobel">B. Delobel</name><affiliation wicri:level="1"><mods:affiliation>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Dieux, A" sort="Dieux, A" uniqKey="Dieux A" first="A" last="Dieux">A. Dieux</name><affiliation><mods:affiliation>Service de Génétique Clinique, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Vallee, L" sort="Vallee, L" uniqKey="Vallee L" first="L" last="Vallee">L. Vallee</name><affiliation><mods:affiliation>Service de Neuropédiatrie, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Jaillard, S" sort="Jaillard, S" uniqKey="Jaillard S" first="S" last="Jaillard">S. Jaillard</name><affiliation wicri:level="1"><mods:affiliation>Service de Cytogénétique, CHU, Rennes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Odent, S" sort="Odent, S" uniqKey="Odent S" first="S" last="Odent">S. Odent</name><affiliation wicri:level="1"><mods:affiliation>Unité de Génétique Médicale, Hôpital Sud, CHU, Rennes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Médicale, Hôpital Sud, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Isidor, B" sort="Isidor, B" uniqKey="Isidor B" first="B" last="Isidor">B. Isidor</name><affiliation><mods:affiliation>Service de Génétique Médicale, CHU, Nantes</mods:affiliation><wicri:noCountry code="subField">Nantes</wicri:noCountry></affiliation></author><author><name sortKey="Beneteau, C" sort="Beneteau, C" uniqKey="Beneteau C" first="C" last="Beneteau">C. Beneteau</name><affiliation wicri:level="1"><mods:affiliation>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Vigneron, J" sort="Vigneron, J" uniqKey="Vigneron J" first="J" last="Vigneron">J. Vigneron</name><affiliation wicri:level="1"><mods:affiliation>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Bilan, F" sort="Bilan, F" uniqKey="Bilan F" first="F" last="Bilan">F. Bilan</name><affiliation wicri:level="1"><mods:affiliation>Service de Génétique, CHU, Poitiers, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU, Poitiers</wicri:regionArea></affiliation></author><author><name sortKey="Gilbert Ussardier, B" sort="Gilbert Ussardier, B" uniqKey="Gilbert Ussardier B" first="B" last="Gilbert-Dussardier">B. Gilbert-Dussardier</name><affiliation wicri:level="1"><mods:affiliation>Service de Génétique, CHU, Poitiers, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU, Poitiers</wicri:regionArea></affiliation></author><author><name sortKey="Dubourg, C" sort="Dubourg, C" uniqKey="Dubourg C" first="C" last="Dubourg">C. Dubourg</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Moléculaire, CHU, Rennes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Labalme, A" sort="Labalme, A" uniqKey="Labalme A" first="A" last="Labalme">A. Labalme</name><affiliation wicri:level="1"><mods:affiliation>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Bidon, C" sort="Bidon, C" uniqKey="Bidon C" first="C" last="Bidon">C. Bidon</name><affiliation wicri:level="1"><mods:affiliation>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Gautier, A" sort="Gautier, A" uniqKey="Gautier A" first="A" last="Gautier">A. Gautier</name><affiliation wicri:level="1"><mods:affiliation>Neuropédiatrie, CHU, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Neuropédiatrie, CHU, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Pernes, P" sort="Pernes, P" uniqKey="Pernes P" first="P" last="Pernes">P. Pernes</name><affiliation wicri:level="1"><mods:affiliation>Centre de soins Saint Exupery, Vendin Le Vieil, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de soins Saint Exupery, Vendin Le Vieil</wicri:regionArea></affiliation></author><author><name sortKey="Pinoit, Jm" sort="Pinoit, Jm" uniqKey="Pinoit J" first="Jm" last="Pinoit">Jm Pinoit</name><affiliation><mods:affiliation>Service de Pédopsychiatrie</mods:affiliation><wicri:noCountry code="no comma">Service de Pédopsychiatrie</wicri:noCountry></affiliation></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><affiliation wicri:level="1"><mods:affiliation>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Mugneret, F" sort="Mugneret, F" uniqKey="Mugneret F" first="F" last="Mugneret">F. Mugneret</name><affiliation><mods:affiliation>Service de cytogénétique, Plateau Technique de Biologie, CHU Le Bocage, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation></author><author><name sortKey="Aral, B" sort="Aral, B" uniqKey="Aral B" first="B" last="Aral">B. Aral</name><affiliation wicri:level="1"><mods:affiliation>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Jonveaux, P" sort="Jonveaux, P" uniqKey="Jonveaux P" first="P" last="Jonveaux">P. Jonveaux</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><affiliation wicri:level="1"><mods:affiliation>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Neuropédiatrie, CHU, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Neuropédiatrie, CHU, Nantes</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de soins Saint Exupery, Vendin Le Vieil, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de soins Saint Exupery, Vendin Le Vieil</wicri:regionArea></affiliation><affiliation><mods:affiliation>Service de Pédopsychiatrie</mods:affiliation><wicri:noCountry code="no comma">Service de Pédopsychiatrie</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>EA 4171, Université Claude Bernard Lyon 1, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>EA 4171, Université Claude Bernard Lyon 1, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><affiliation><mods:affiliation>Centre de Génétique et Centre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d’Enfants, CHU, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: laurence.faivre@chu‐dijon.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:B66C60804B18AC075AB8BC4FD727A1408605E2AD</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1111/j.1399-0004.2010.01374.x</idno><idno type="url">https://api.istex.fr/document/B66C60804B18AC075AB8BC4FD727A1408605E2AD/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">005570</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005570</idno><idno type="wicri:Area/Istex/Curation">005570</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Delineation of 15q13.3 microdeletions</title><author><name sortKey="Masurel Aulet, A" sort="Masurel Aulet, A" uniqKey="Masurel Aulet A" first="A" last="Masurel-Paulet">A. Masurel-Paulet</name><affiliation><mods:affiliation>Centre de Génétique et Centre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d’Enfants, CHU, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation></author><author><name sortKey="Andrieux, J" sort="Andrieux, J" uniqKey="Andrieux J" first="J" last="Andrieux">J. Andrieux</name><affiliation><mods:affiliation>Laboratoire de Génétique Médicale, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Callier, P" sort="Callier, P" uniqKey="Callier P" first="P" last="Callier">P. Callier</name><affiliation><mods:affiliation>Service de cytogénétique, Plateau Technique de Biologie, CHU Le Bocage, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation></author><author><name sortKey="Cuisset, Jm" sort="Cuisset, Jm" uniqKey="Cuisset J" first="Jm" last="Cuisset">Jm Cuisset</name><affiliation><mods:affiliation>Service de Neuropédiatrie, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Le Caignec, C" sort="Le Caignec, C" uniqKey="Le Caignec C" first="C" last="Le Caignec">C. Le Caignec</name><affiliation><mods:affiliation>Service de Génétique Médicale, CHU, Nantes</mods:affiliation><wicri:noCountry code="subField">Nantes</wicri:noCountry></affiliation></author><author><name sortKey="Holder, M" sort="Holder, M" uniqKey="Holder M" first="M" last="Holder">M. Holder</name><affiliation><mods:affiliation>Service de Génétique Clinique, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Thauvin Obinet, C" sort="Thauvin Obinet, C" uniqKey="Thauvin Obinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><affiliation><mods:affiliation>Centre de Génétique et Centre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d’Enfants, CHU, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation></author><author><name sortKey="Doray, B" sort="Doray, B" uniqKey="Doray B" first="B" last="Doray">B. Doray</name><affiliation><mods:affiliation>Service de Génétique Médicale</mods:affiliation><wicri:noCountry code="no comma">Service de Génétique Médicale</wicri:noCountry></affiliation></author><author><name sortKey="Flori, E" sort="Flori, E" uniqKey="Flori E" first="E" last="Flori">E. Flori</name><affiliation wicri:level="1"><mods:affiliation>Service de Cytogénétique, Hôpital Hautepierre, CHU, Strasbourg, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique, Hôpital Hautepierre, CHU, Strasbourg</wicri:regionArea></affiliation></author><author><name sortKey="Alex Ordier, Mp" sort="Alex Ordier, Mp" uniqKey="Alex Ordier M" first="Mp" last="Alex-Cordier">Mp Alex-Cordier</name><affiliation wicri:level="1"><mods:affiliation>Service de Génétique, Hospices Civils de Lyon, Bron, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Hospices Civils de Lyon, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Beri, M" sort="Beri, M" uniqKey="Beri M" first="M" last="Beri">M. Beri</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Boute, O" sort="Boute, O" uniqKey="Boute O" first="O" last="Boute">O. Boute</name><affiliation><mods:affiliation>Service de Génétique Clinique, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Delobel, B" sort="Delobel, B" uniqKey="Delobel B" first="B" last="Delobel">B. Delobel</name><affiliation wicri:level="1"><mods:affiliation>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Dieux, A" sort="Dieux, A" uniqKey="Dieux A" first="A" last="Dieux">A. Dieux</name><affiliation><mods:affiliation>Service de Génétique Clinique, Hôpital Jeanne‐de‐Flandre, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Vallee, L" sort="Vallee, L" uniqKey="Vallee L" first="L" last="Vallee">L. Vallee</name><affiliation><mods:affiliation>Service de Neuropédiatrie, CHRU, Lille</mods:affiliation><wicri:noCountry code="subField">Lille</wicri:noCountry></affiliation></author><author><name sortKey="Jaillard, S" sort="Jaillard, S" uniqKey="Jaillard S" first="S" last="Jaillard">S. Jaillard</name><affiliation wicri:level="1"><mods:affiliation>Service de Cytogénétique, CHU, Rennes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Odent, S" sort="Odent, S" uniqKey="Odent S" first="S" last="Odent">S. Odent</name><affiliation wicri:level="1"><mods:affiliation>Unité de Génétique Médicale, Hôpital Sud, CHU, Rennes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Génétique Médicale, Hôpital Sud, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Isidor, B" sort="Isidor, B" uniqKey="Isidor B" first="B" last="Isidor">B. Isidor</name><affiliation><mods:affiliation>Service de Génétique Médicale, CHU, Nantes</mods:affiliation><wicri:noCountry code="subField">Nantes</wicri:noCountry></affiliation></author><author><name sortKey="Beneteau, C" sort="Beneteau, C" uniqKey="Beneteau C" first="C" last="Beneteau">C. Beneteau</name><affiliation wicri:level="1"><mods:affiliation>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Vigneron, J" sort="Vigneron, J" uniqKey="Vigneron J" first="J" last="Vigneron">J. Vigneron</name><affiliation wicri:level="1"><mods:affiliation>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Bilan, F" sort="Bilan, F" uniqKey="Bilan F" first="F" last="Bilan">F. Bilan</name><affiliation wicri:level="1"><mods:affiliation>Service de Génétique, CHU, Poitiers, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU, Poitiers</wicri:regionArea></affiliation></author><author><name sortKey="Gilbert Ussardier, B" sort="Gilbert Ussardier, B" uniqKey="Gilbert Ussardier B" first="B" last="Gilbert-Dussardier">B. Gilbert-Dussardier</name><affiliation wicri:level="1"><mods:affiliation>Service de Génétique, CHU, Poitiers, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU, Poitiers</wicri:regionArea></affiliation></author><author><name sortKey="Dubourg, C" sort="Dubourg, C" uniqKey="Dubourg C" first="C" last="Dubourg">C. Dubourg</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Moléculaire, CHU, Rennes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Labalme, A" sort="Labalme, A" uniqKey="Labalme A" first="A" last="Labalme">A. Labalme</name><affiliation wicri:level="1"><mods:affiliation>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Bidon, C" sort="Bidon, C" uniqKey="Bidon C" first="C" last="Bidon">C. Bidon</name><affiliation wicri:level="1"><mods:affiliation>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Gautier, A" sort="Gautier, A" uniqKey="Gautier A" first="A" last="Gautier">A. Gautier</name><affiliation wicri:level="1"><mods:affiliation>Neuropédiatrie, CHU, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Neuropédiatrie, CHU, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Pernes, P" sort="Pernes, P" uniqKey="Pernes P" first="P" last="Pernes">P. Pernes</name><affiliation wicri:level="1"><mods:affiliation>Centre de soins Saint Exupery, Vendin Le Vieil, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de soins Saint Exupery, Vendin Le Vieil</wicri:regionArea></affiliation></author><author><name sortKey="Pinoit, Jm" sort="Pinoit, Jm" uniqKey="Pinoit J" first="Jm" last="Pinoit">Jm Pinoit</name><affiliation><mods:affiliation>Service de Pédopsychiatrie</mods:affiliation><wicri:noCountry code="no comma">Service de Pédopsychiatrie</wicri:noCountry></affiliation></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><affiliation wicri:level="1"><mods:affiliation>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Mugneret, F" sort="Mugneret, F" uniqKey="Mugneret F" first="F" last="Mugneret">F. Mugneret</name><affiliation><mods:affiliation>Service de cytogénétique, Plateau Technique de Biologie, CHU Le Bocage, Dijon</mods:affiliation><wicri:noCountry code="subField">Dijon</wicri:noCountry></affiliation></author><author><name sortKey="Aral, B" sort="Aral, B" uniqKey="Aral B" first="B" last="Aral">B. Aral</name><affiliation wicri:level="1"><mods:affiliation>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Jonveaux, P" sort="Jonveaux, P" uniqKey="Jonveaux P" first="P" last="Jonveaux">P. Jonveaux</name><affiliation wicri:level="1"><mods:affiliation>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><affiliation wicri:level="1"><mods:affiliation>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Neuropédiatrie, CHU, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Neuropédiatrie, CHU, Nantes</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Centre de soins Saint Exupery, Vendin Le Vieil, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de soins Saint Exupery, Vendin Le Vieil</wicri:regionArea></affiliation><affiliation><mods:affiliation>Service de Pédopsychiatrie</mods:affiliation></affiliation><affiliation wicri:level="1"><mods:affiliation>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>EA 4171, Université Claude Bernard Lyon 1, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>EA 4171, Université Claude Bernard Lyon 1, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><affiliation><mods:affiliation>Centre de Génétique et Centre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d’Enfants, CHU, Dijon</mods:affiliation></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: laurence.faivre@chu‐dijon.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">78</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="149">149</biblScope><biblScope unit="page" to="161">161</biblScope><biblScope unit="page-count">13</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2010-08">2010-08</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Masurel‐Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin‐Robinet C, Doray B, Flori E, Alex‐Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert‐Dussardier B, Dubourg C, Labalme A, Gautier A, Pernes P, Bidon C, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L. Delineation of 15q13.3 microdeletions. The increasing use of array‐comparative genomic hybridization (array‐CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generally present with relatively consistent breakpoints at BP4 and BP5, which include the CHRNA7 gene. About 100 index cases have been reported since the first publication in 2008. This large number of patients ascertained through highly variable samples has been necessary to describe the full phenotypic spectrum of this microdeletion, ranging from mental retardation with dysmorphic features, epilepsy, neuropsychiatric disturbances with or without cognitive impairment to complete absence of anomalies. Here, we describe a collaborative study reporting a new cohort of 12 index patients and 13 relatives carrying a heterozygous BP4–BP5 microdeletion out of a series of 4625 patients screened by array‐CGH for DD. We confirm the clinical expressivity of the disease as well as the incomplete penetrance in seven families. We showed through a review of the literature that males are more likely to be symptomatic. Sequence analysis of CHRNA7 yielded no data to support the unmasking of recessive variants as a cause of phenotypic variability. We also report the first patient carrying a 15q13.3 homozygous microdeletion inherited from both parents. He had severe epileptic encephalopathy with retinopathy, autistic features and choreoathetosis. Besides the classical ∼1.5 Mb BP4–BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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