eCommons@AKU

Title

Fragile X syndrome due to a missense mutation

Authors

Leila K. Myrick, Emory University School of Medicine, United States
Mika Nakamoto-Kinoshita, Emory University School of Medicine, United States
Noralane M. Lindor, Mayo Clinic, United States
Salman Kirmani, Mayo Clinic, United StatesFollow
Xiaodong Cheng, Emory University, United States
Stephen T. Warren, Emory University School of Medicine, United States

Document Type

Article

Department

Paediatrics and Child Health

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.

Comments

This work was published before the author joined Aga Khan University.

Publication ( Name of Journal)

European Journal of Human Genetics

Recommended Citation

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.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1245