| A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. | |
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MedLine Citation:
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PMID: 18278044 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb deletion has a proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5-Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is probably responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is approximately 0.3% (6/2,082 tested), a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes. |
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Authors:
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Andrew J Sharp; Heather C Mefford; Kelly Li; Carl Baker; Cindy Skinner; Roger E Stevenson; Richard J Schroer; Francesca Novara; Manuela De Gregori; Roberto Ciccone; Adam Broomer; Iris Casuga; Yu Wang; Chunlin Xiao; Catalin Barbacioru; Giorgio Gimelli; Bernardo Dalla Bernardina; Claudia Torniero; Roberto Giorda; Regina Regan; Victoria Murday; Sahar Mansour; Marco Fichera; Lucia Castiglia; Pinella Failla; Mario Ventura; Zhaoshi Jiang; Gregory M Cooper; Samantha J L Knight; Corrado Romano; Orsetta Zuffardi; Caifu Chen; Charles E Schwartz; Evan E Eichler |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2008-02-17 |
Journal Detail:
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Title: Nature genetics Volume: 40 ISSN: 1546-1718 ISO Abbreviation: Nat. Genet. Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-02-28 Completed Date: 2008-04-02 Revised Date: 2013-06-05 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 322-8 Citation Subset: IM |
Affiliation:
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Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific St., Seattle, Washington 98195, USA. |
| Data Bank Information | |
Bank Name/Acc. No.:
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GEO/GSE10189 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Child, Preschool Chromosome Breakage Chromosomes, Human, Pair 15* Female Gene Deletion* Gene Frequency Humans Inheritance Patterns Intellectual Disability / genetics* Male Pedigree Receptors, Nicotinic / genetics Seizures / genetics* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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HD043569/HD/NICHD NIH HHS; U01 HL069757/HL/NHLBI NIH HHS; //Howard Hughes Medical Institute |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Nicotinic; 0/alpha7 nicotinic acetylcholine receptor |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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