Fragile X syndrome due to a missense mutation
Paediatrics and Child Health
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.
Publication ( Name of Journal)
European Journal of Human Genetics
Myrick, L. K.,
Lindor, N. M.,
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