Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 10, Pages 1358-1367Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.32261
Keywords
deletion; mosaic; mental retardation; social anxiety; fragile X syndrome
Categories
Funding
- NICHD NIH HHS [HD24064, P30 HD024064, HD020521, P30 HD024064-20S10006, R37 HD020521, R01 HD020521, R01 HD020521-23] Funding Source: Medline
- NIGMS NIH HHS [T32 GM008490] Funding Source: Medline
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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. (C) 2008 Wiley-Liss, Inc.
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