| Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. | |
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MedLine Citation:
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PMID: 18412117 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The most common cause of fragile X syndrome is expansion of a CGG trinucleotide repeat in the 5'UTR of FMR1. This expansion leads to transcriptional silencing of the gene. However, other mutational mechanisms, such as deletions of FMR1, also cause fragile X syndrome. The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here on an 11-year-old boy with a cognitive and behavioral profile with features compatible with, but not specific to, fragile X syndrome. A mosaic deletion of 1,013,395 bp was found using high-density X chromosome microarray analysis followed by sequencing of the deletion breakpoints. We review the literature of FMR1 deletions and present this case in the context of other FMR1 deletions having mental retardation that may or may not have the classic fragile X phenotype. |
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Authors:
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Bradford Coffee; Morna Ikeda; Dejan B Budimirovic; Lawrence N Hjelm; Walter E Kaufmann; Stephen T Warren |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Review |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 May |
Date Detail:
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Created Date: 2008-04-29 Completed Date: 2008-05-28 Revised Date: 2010-10-06 |
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: 1358-67 Citation Subset: IM |
Copyright Information:
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2008 Wiley-Liss, Inc. |
Affiliation:
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Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA. bcoffee@genetics.emory.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Behavioral Symptoms
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diagnosis,
genetics Child Chromosomes, Human, X / genetics Diagnostic Errors* Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / diagnosis*, genetics, physiopathology Humans Male Mental Disorders / diagnosis*, genetics Mosaicism* Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis Sequence Deletion* |
| Grant Support | |
ID/Acronym/Agency:
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HD020521/HD/NICHD NIH HHS; HD24064/HD/NICHD NIH HHS; P30 HD024064-20S10006/HD/NICHD NIH HHS; R01 HD020521-23/HD/NICHD NIH HHS; R01 HD020521-25/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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