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Article

Fragile X syndrome due to a missense mutation.

European journal of human genetics : EJHG - 1 Oct 2014

Myrick Leila K, Nakamoto-Kinoshita Mika, Lindor Noralane M, Kirmani Salman, Cheng Xiaodong, Warren Stephen T

Abstract excerpt

Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion mutation in the FMR1 gene that silences the locus. In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome. Here we describe a 16-year-old male presenting with fragile X...

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Share to Adolescent
Share to Amino Acid Sequence
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Loci

Share to Mutation, Missense

Share to Protein Conformation

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 24448548
DOI: 10.1038/ejhg.2013.311
PMCID: PMC4169535

Genes

FMR1

Variants

Provenance

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