Fragile X syndrome due to a missense mutation

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

Research output: Contribution to journalArticle

37 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1185-1189
Number of pages5
JournalEuropean Journal of Human Genetics
Volume22
Issue number10
DOIs
StatePublished - Oct 11 2014

Fingerprint

Fragile X Syndrome
Missense Mutation
Glycine
Glutamic Acid
Mutation
Intellectual Disability
Proteins
Genes

Keywords

  • FMR1 sequencing
  • fragile X syndrome
  • missense
  • mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Myrick, L. K., Nakamoto-Kinoshita, M., Lindor, N. M., Kirmani, S., Cheng, X., & Warren, S. T. (2014). Fragile X syndrome due to a missense mutation. European Journal of Human Genetics, 22(10), 1185-1189. https://doi.org/10.1038/ejhg.2013.311

Fragile X syndrome due to a missense mutation. / Myrick, Leila K.; Nakamoto-Kinoshita, Mika; Lindor, Noralane Morey; Kirmani, Salman; Cheng, Xiaodong; Warren, Stephen T.

In: European Journal of Human Genetics, Vol. 22, No. 10, 11.10.2014, p. 1185-1189.

Research output: Contribution to journalArticle

Myrick, LK, Nakamoto-Kinoshita, M, Lindor, NM, Kirmani, S, Cheng, X & Warren, ST 2014, 'Fragile X syndrome due to a missense mutation', European Journal of Human Genetics, vol. 22, no. 10, pp. 1185-1189. https://doi.org/10.1038/ejhg.2013.311
Myrick LK, Nakamoto-Kinoshita M, Lindor NM, Kirmani S, Cheng X, Warren ST. Fragile X syndrome due to a missense mutation. European Journal of Human Genetics. 2014 Oct 11;22(10):1185-1189. https://doi.org/10.1038/ejhg.2013.311
Myrick, Leila K. ; Nakamoto-Kinoshita, Mika ; Lindor, Noralane Morey ; Kirmani, Salman ; Cheng, Xiaodong ; Warren, Stephen T. / Fragile X syndrome due to a missense mutation. In: European Journal of Human Genetics. 2014 ; Vol. 22, No. 10. pp. 1185-1189.
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