A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33
Identifieur interne : 005B34 ( Main/Merge ); précédent : 005B33; suivant : 005B35A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33
Auteurs : Ryan N. Traylor [États-Unis] ; Damien L. Bruno [Australie] ; Trent Burgess [Australie] ; Robert Wildin [États-Unis] ; Anne Spencer [États-Unis] ; Devika Ganesamoorthy [Australie] ; David J. Amor [Australie] ; Matthew Hunter [Australie] ; Michael Caplan [États-Unis] ; Jill A. Rosenfeld [États-Unis] ; Aaron Theisen [États-Unis] ; Beth S. Torchia [États-Unis] ; Lisa G. Shaffer [États-Unis] ; Blake C. Ballif [États-Unis] ; Howard R. Slater [Australie]Source :
- PLoS ONE [ 1932-6203 ] ; 2010.
Abstract
Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.
We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.
Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including
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DOI: 10.1371/journal.pone.0012462
PubMed: 20805988
PubMed Central: 2929201
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Rosenfeld</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Theisen, Aaron" sort="Theisen, Aaron" uniqKey="Theisen A" first="Aaron" last="Theisen">Aaron Theisen</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Torchia, Beth S" sort="Torchia, Beth S" uniqKey="Torchia B" first="Beth S." last="Torchia">Beth S. 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Traylor</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Bruno, Damien L" sort="Bruno, Damien L" uniqKey="Bruno D" first="Damien L." last="Bruno">Damien L. Bruno</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Burgess, Trent" sort="Burgess, Trent" uniqKey="Burgess T" first="Trent" last="Burgess">Trent Burgess</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Wildin, Robert" sort="Wildin, Robert" uniqKey="Wildin R" first="Robert" last="Wildin">Robert Wildin</name><affiliation wicri:level="2"><nlm:aff id="aff4"><addr-line>St. Luke's Regional Medical Center, Boise, Idaho, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Luke's Regional Medical Center, Boise, Idaho</wicri:regionArea><placeName><region type="state">Idaho</region></placeName></affiliation></author><author><name sortKey="Spencer, Anne" sort="Spencer, Anne" uniqKey="Spencer A" first="Anne" last="Spencer">Anne Spencer</name><affiliation wicri:level="2"><nlm:aff id="aff4"><addr-line>St. Luke's Regional Medical Center, Boise, Idaho, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Luke's Regional Medical Center, Boise, Idaho</wicri:regionArea><placeName><region type="state">Idaho</region></placeName></affiliation></author><author><name sortKey="Ganesamoorthy, Devika" sort="Ganesamoorthy, Devika" uniqKey="Ganesamoorthy D" first="Devika" last="Ganesamoorthy">Devika Ganesamoorthy</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Amor, David J" sort="Amor, David J" uniqKey="Amor D" first="David J." last="Amor">David J. Amor</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Hunter, Matthew" sort="Hunter, Matthew" uniqKey="Hunter M" first="Matthew" last="Hunter">Matthew Hunter</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Caplan, Michael" sort="Caplan, Michael" uniqKey="Caplan M" first="Michael" last="Caplan">Michael Caplan</name><affiliation wicri:level="2"><nlm:aff id="aff5"><addr-line>Northshore University Healthsystem, Pritzker School of Medicine, University of Chicago, Chicago, Illinois, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Northshore University Healthsystem, Pritzker School of Medicine, University of Chicago, Chicago, Illinois</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A." last="Rosenfeld">Jill A. Rosenfeld</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Theisen, Aaron" sort="Theisen, Aaron" uniqKey="Theisen A" first="Aaron" last="Theisen">Aaron Theisen</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Torchia, Beth S" sort="Torchia, Beth S" uniqKey="Torchia B" first="Beth S." last="Torchia">Beth S. Torchia</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Shaffer, Lisa G" sort="Shaffer, Lisa G" uniqKey="Shaffer L" first="Lisa G." last="Shaffer">Lisa G. Shaffer</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Ballif, Blake C" sort="Ballif, Blake C" uniqKey="Ballif B" first="Blake C." last="Ballif">Blake C. Ballif</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Signature Genomic Laboratories, Spokane, Washington, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Signature Genomic Laboratories, Spokane, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Slater, Howard R" sort="Slater, Howard R" uniqKey="Slater H" first="Howard R." last="Slater">Howard R. Slater</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features.</p></sec><sec><title>Methodology/Principal Findings</title><p>We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions.</p></sec><sec><title>Conclusions/Significance</title><p>Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including <italic>ARFGAP1</italic>, <italic>CHRNA4</italic> and <italic>KCNQ2</italic> and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Shaffer, Lg" uniqKey="Shaffer L">LG Shaffer</name></author><author><name sortKey="Theisen, A" uniqKey="Theisen A">A Theisen</name></author><author><name sortKey="Bejjani, Ba" uniqKey="Bejjani B">BA Bejjani</name></author><author><name sortKey="Ballif, Bc" uniqKey="Ballif B">BC Ballif</name></author><author><name sortKey="Aylsworth, As" uniqKey="Aylsworth A">AS Aylsworth</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fraisse, J" uniqKey="Fraisse J">J Fraisse</name></author><author><name sortKey="Bertheas, Mf" uniqKey="Bertheas M">MF Bertheas</name></author><author><name sortKey="Frere, F" uniqKey="Frere F">F Frere</name></author><author><name sortKey="Lauras, B" uniqKey="Lauras B">B Lauras</name></author><author><name sortKey="Rolland, Mo" uniqKey="Rolland M">MO 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