| Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. | |
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MedLine Citation:
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PMID: 20830797 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The screening of individuals with mild dysmorphic features and mental retardation using whole genome scanning technologies has resulted in the delineation of several previously unrecognized microdeletion syndromes. Microdeletion of 3q29 has been recently described as one such new syndrome. The clinical phenotype is variable despite an almost identical submicroscopic deletion size in most cases. We report on two individuals that further expand the clinical presentation of this rare disorder and compare the findings with earlier reports to refine the 3q29 microdeletion syndrome phenotype. The propositi are a 10-year-old female and a 15-year-old male, who have in common intellectual disabilities, a history of autism and psychiatric symptoms ranging from bipolar disorder presenting with increasing suicidal ideation to aggressive behavior and general anxiety. Other shared physical findings include asymmetric face, high-nasal bridge, crowded/dysplastic teeth, and tapered fingers. Oligonucleotide array-based chromosomal microarray analysis (CMA) using a genome-wide SNP array identified a de novo subtelomeric microdeletion of chromosome region 3q29 ranging from 1.6 to 2.1 Mb. The region of overlap encompasses 20 RefSeq genes, including FBX045, DLG1, and PAK2. These genes are related to neuronal postsynaptic membrane function and PTEN signaling, suggesting a role for synaptic connectivity dysfunction in the etiology of autism in these children. The novel clinical presentation of our patients expands the clinical spectrum of the 3q29 microdeletion syndrome and provides additional insights into the pathophysiology of autism and psychiatric disorders. |
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Authors:
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Fabiola Quintero-Rivera; Pantea Sharifi-Hannauer; Julian A Martinez-Agosto |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-27 Completed Date: 2010-11-16 Revised Date: 2010-12-03 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2459-67 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Pathology and Laboratory Medicine, University of California, Los Angeles, California 90095, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Autistic Disorder / genetics* Bipolar Disorder / genetics* Child Chromosome Mapping Chromosomes, Human, Pair 3* Female Humans In Situ Hybridization, Fluorescence Male Mental Retardation / genetics* Oligonucleotide Array Sequence Analysis PTEN Phosphohydrolase / genetics Paternal Age Phenotype Psychotic Disorders / genetics* Sequence Deletion* Synapses / physiology Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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L40 CA143726-03/CA/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 3.1.3.67/PTEN Phosphohydrolase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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