Delineation of 15q13.3 microdeletions
Identifieur interne : 000350 ( France/Analysis ); précédent : 000349; suivant : 000351Delineation 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.
Url:
DOI: 10.1111/j.1399-0004.2010.01374.x
Affiliations:
- France
- Alsace (région administrative), Auvergne-Rhône-Alpes, Bourgogne, Bourgogne-Franche-Comté, Grand Est, Hauts-de-France, Lorraine (région), Nord-Pas-de-Calais, Nouvelle-Aquitaine, Pays de la Loire, Poitou-Charentes, Rhône-Alpes, Région Bretagne
- Dijon, Lille, Lyon, Nancy, Nantes, Poitiers, Rennes, Strasbourg
- Université Claude Bernard Lyon 1
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ISTEX:B66C60804B18AC075AB8BC4FD727A1408605E2ADLe document en format XML
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Vigneron</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Lorraine (région)</region><settlement type="city">Nancy</settlement></placeName></affiliation></author><author><name sortKey="Bilan, F" sort="Bilan, F" uniqKey="Bilan F" first="F" last="Bilan">F. Bilan</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU, Poitiers</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Poitou-Charentes</region><settlement type="city">Poitiers</settlement></placeName></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="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU, Poitiers</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Poitou-Charentes</region><settlement type="city">Poitiers</settlement></placeName></affiliation></author><author><name sortKey="Dubourg, C" sort="Dubourg, C" uniqKey="Dubourg C" first="C" last="Dubourg">C. Dubourg</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, CHU, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Labalme, A" sort="Labalme, A" uniqKey="Labalme A" first="A" last="Labalme">A. Labalme</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Bidon, C" sort="Bidon, C" uniqKey="Bidon C" first="C" last="Bidon">C. Bidon</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Gautier, A" sort="Gautier, A" uniqKey="Gautier A" first="A" last="Gautier">A. Gautier</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Neuropédiatrie, CHU, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Pernes, P" sort="Pernes, P" uniqKey="Pernes P" first="P" last="Pernes">P. Pernes</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre de soins Saint Exupery, Vendin Le Vieil</wicri:regionArea><wicri:noRegion>Vendin Le Vieil</wicri:noRegion><wicri:noRegion>Vendin Le Vieil</wicri:noRegion></affiliation></author><author><name sortKey="Pinoit, Jm" sort="Pinoit, Jm" uniqKey="Pinoit J" first="Jm" last="Pinoit">Jm Pinoit</name><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="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Mugneret, F" sort="Mugneret, F" uniqKey="Mugneret F" first="F" last="Mugneret">F. Mugneret</name><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="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie‐Génétique, Maternité Régionale Universitaire, Nancy</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Lorraine (région)</region><settlement type="city">Nancy</settlement></placeName></affiliation></author><author><name sortKey="Jonveaux, P" sort="Jonveaux, P" uniqKey="Jonveaux P" first="P" last="Jonveaux">P. Jonveaux</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Médicale, Hôpital Brabois, CHU, Nancy</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Lorraine (région)</region><settlement type="city">Nancy</settlement></placeName></affiliation></author><author><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, GHE, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Biologie Moléculaire, Plateau Technique de Biologie, CHU le Bocage, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Neuropédiatrie, CHU, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre de soins Saint Exupery, Vendin Le Vieil</wicri:regionArea><wicri:noRegion>Vendin Le Vieil</wicri:noRegion><wicri:noRegion>Vendin Le Vieil</wicri:noRegion></affiliation><affiliation></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Hôpital d’Enfants, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>EA 4171, Université Claude Bernard Lyon 1, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement><settlement type="city">Lyon</settlement></placeName><orgName type="university">Université Claude Bernard Lyon 1</orgName></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><affiliation></affiliation><affiliation wicri:level="1"><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><affiliations><list><country><li>France</li></country><region><li>Alsace (région administrative)</li><li>Auvergne-Rhône-Alpes</li><li>Bourgogne</li><li>Bourgogne-Franche-Comté</li><li>Grand Est</li><li>Hauts-de-France</li><li>Lorraine (région)</li><li>Nord-Pas-de-Calais</li><li>Nouvelle-Aquitaine</li><li>Pays de la Loire</li><li>Poitou-Charentes</li><li>Rhône-Alpes</li><li>Région Bretagne</li></region><settlement><li>Dijon</li><li>Lille</li><li>Lyon</li><li>Nancy</li><li>Nantes</li><li>Poitiers</li><li>Rennes</li><li>Strasbourg</li></settlement><orgName><li>Université Claude Bernard Lyon 1</li></orgName></list><tree><noCountry><name sortKey="Andrieux, J" sort="Andrieux, J" uniqKey="Andrieux J" first="J" last="Andrieux">J. Andrieux</name><name sortKey="Boute, O" sort="Boute, O" uniqKey="Boute O" first="O" last="Boute">O. Boute</name><name sortKey="Callier, P" sort="Callier, P" uniqKey="Callier P" first="P" last="Callier">P. Callier</name><name sortKey="Cuisset, Jm" sort="Cuisset, Jm" uniqKey="Cuisset J" first="Jm" last="Cuisset">Jm Cuisset</name><name sortKey="Dieux, A" sort="Dieux, A" uniqKey="Dieux A" first="A" last="Dieux">A. Dieux</name><name sortKey="Doray, B" sort="Doray, B" uniqKey="Doray B" first="B" last="Doray">B. Doray</name><name sortKey="Holder, M" sort="Holder, M" uniqKey="Holder M" first="M" last="Holder">M. Holder</name><name sortKey="Isidor, B" sort="Isidor, B" uniqKey="Isidor B" first="B" last="Isidor">B. Isidor</name><name sortKey="Le Caignec, C" sort="Le Caignec, C" uniqKey="Le Caignec C" first="C" last="Le Caignec">C. Le Caignec</name><name sortKey="Masurel Aulet, A" sort="Masurel Aulet, A" uniqKey="Masurel Aulet A" first="A" last="Masurel-Paulet">A. Masurel-Paulet</name><name sortKey="Mugneret, F" sort="Mugneret, F" uniqKey="Mugneret F" first="F" last="Mugneret">F. Mugneret</name><name sortKey="Pinoit, Jm" sort="Pinoit, Jm" uniqKey="Pinoit J" first="Jm" last="Pinoit">Jm Pinoit</name><name sortKey="Thauvin Obinet, C" sort="Thauvin Obinet, C" uniqKey="Thauvin Obinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><name sortKey="Vallee, L" sort="Vallee, L" uniqKey="Vallee L" first="L" last="Vallee">L. Vallee</name></noCountry><country name="France"><region name="Grand Est"><name sortKey="Flori, E" sort="Flori, E" uniqKey="Flori E" first="E" last="Flori">E. Flori</name></region><name sortKey="Alex Ordier, Mp" sort="Alex Ordier, Mp" uniqKey="Alex Ordier M" first="Mp" last="Alex-Cordier">Mp Alex-Cordier</name><name sortKey="Aral, B" sort="Aral, B" uniqKey="Aral B" first="B" last="Aral">B. Aral</name><name sortKey="Beneteau, C" sort="Beneteau, C" uniqKey="Beneteau C" first="C" last="Beneteau">C. Beneteau</name><name sortKey="Beri, M" sort="Beri, M" uniqKey="Beri M" first="M" last="Beri">M. Beri</name><name sortKey="Bidon, C" sort="Bidon, C" uniqKey="Bidon C" first="C" last="Bidon">C. Bidon</name><name sortKey="Bilan, F" sort="Bilan, F" uniqKey="Bilan F" first="F" last="Bilan">F. Bilan</name><name sortKey="Delobel, B" sort="Delobel, B" uniqKey="Delobel B" first="B" last="Delobel">B. Delobel</name><name sortKey="Dubourg, C" sort="Dubourg, C" uniqKey="Dubourg C" first="C" last="Dubourg">C. Dubourg</name><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><name sortKey="Gautier, A" sort="Gautier, A" uniqKey="Gautier A" first="A" last="Gautier">A. Gautier</name><name sortKey="Gilbert Ussardier, B" sort="Gilbert Ussardier, B" uniqKey="Gilbert Ussardier B" first="B" last="Gilbert-Dussardier">B. Gilbert-Dussardier</name><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><name sortKey="Jaillard, S" sort="Jaillard, S" uniqKey="Jaillard S" first="S" last="Jaillard">S. Jaillard</name><name sortKey="Jonveaux, P" sort="Jonveaux, P" uniqKey="Jonveaux P" first="P" last="Jonveaux">P. Jonveaux</name><name sortKey="Labalme, A" sort="Labalme, A" uniqKey="Labalme A" first="A" last="Labalme">A. Labalme</name><name sortKey="Odent, S" sort="Odent, S" uniqKey="Odent S" first="S" last="Odent">S. Odent</name><name sortKey="Pernes, P" sort="Pernes, P" uniqKey="Pernes P" first="P" last="Pernes">P. Pernes</name><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><name sortKey="Sanlaville, D" sort="Sanlaville, D" uniqKey="Sanlaville D" first="D" last="Sanlaville">D. Sanlaville</name><name sortKey="Vigneron, J" sort="Vigneron, J" uniqKey="Vigneron J" first="J" last="Vigneron">J. Vigneron</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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