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Eur J Hum Genet. 2014 Oct;22(10):1185-9. doi: 10.1038/ejhg.2013.311. Epub 2014 Jan 22.

Fragile X syndrome due to a missense mutation.

Author information

1
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
2
Department of Health Science Research, Mayo Clinic, Scottsdale, AZ, USA.
3
Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA.
4
Department of Biochemistry, Emory University, Atlanta, GA, USA.
5
1] Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA [2] Department of Biochemistry, Emory University, Atlanta, GA, USA [3] Department of Pediatrics, Emory University, Atlanta, GA, USA.

Abstract

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 syndrome but without the repeat expansion mutation. Rather, we find a missense mutation, c.797G>A, that replaces glycine 266 with glutamic acid (p.(Gly266Glu)). The Gly266Glu FMR protein abolished many functional properties of the protein. This patient highlights the diagnostic utility of FMR1 sequencing.

PMID:
24448548
PMCID:
PMC4169535
DOI:
10.1038/ejhg.2013.311
[Indexed for MEDLINE]
Free PMC Article

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