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A nonsense mutation in FMR1 causing fragile X syndrome

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Fragile X syndrome is a common cause of inherited intellectual disability. It is caused by lack of the FMR1 gene product FMRP. The most frequent cause is the expansion of a CGG repeat located in the 5'UTR of FMR1. Alleles with 200 or more repeats become hypermethylated and transcriptionally silent. Only few patients with intragenic point mutations in FMR1 have been reported and, currently, routine analysis of patients referred for fragile X syndrome includes solely analysis for repeat expansion and methylation status. We identified a substitution in exon 2 of FMR1, c.80C>A, causing a nonsense mutation p.Ser27X, in a patient with classical clinical symptoms of fragile X syndrome. The mother who carried the mutation in heterozygous form presented with mild intellectual impairment. We conclude that further studies including western blot and DNA sequence analysis of the FMR1 gene should be performed in patients with typical symptoms of fragile X syndrome in whom no CGG repeat expansion is detected.

Original languageEnglish
JournalEuropean journal of human genetics : EJHG
Volume19
Issue number4
Pages (from-to)489-91
Number of pages3
ISSN1018-4813
DOIs
Publication statusPublished - Apr 2011

    Research areas

  • Adult, Codon, Nonsense, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome, Humans, Male

ID: 46200637