Mutational analyses of the FMR1 gene in Chinese pediatric population of fragile x suspects: low tolerance for point mutation.

摘要: CGG repeat expansion is the most common cause of fragile X syndrome. Numerous efforts have been made to identify novel mutations in patients with intellectual disability, developmental delay, and/or autism. To evaluate mutational spectrum at-risk Chinese population, 60 pediatric presenting traits but normal-sized repeats were sequenced for all 17 exons and regulatory regions FMR1. A c.879A>C mutation, reported alter a neighboring splicing, was detected severely retarded male his normal mother. However, exon junction appears unaffected. 237-kb deletion covering entire FMR1 identified moderate disability marked hyperactivity an 8-year-old boy. The 5' 3' breakpoints buried surrounding long interspersed short elements, respectively. In general, missense do not commonly syndrome, whereas deletions should be considered caution patient referrals delay ordinary retardation.