English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  Fragile X syndrome (FXS) is caused by loss of function mutations in the  FMR1  gene. Trinucleotide CGG-repeat expansions, resulting in  FMR1  gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat tract.    Methodology/Principal Findings  To more thoroughly evaluate the frequency of conventional mutations in FXS-like patients, we used an array-based method to sequence  FMR1  in 51 unrelated males exhibiting several features characteristic of FXS but with normal CGG-repeat tracts of  FMR1 . One patient was identified with a deletion in  FMR1 , but none of the patients were found to have other conventional mutations.    Conclusions/Significance  These data suggest that missense mutations in  FMR1  are not a common cause of the FXS phenotype in patients who have normal-length CGG-repeat tracts. However, screening for small deletions of  FMR1  may be of clinically utility.

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype