An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
Pathogenic repeat expansions (RE) cause an array of neurogenetic disorders including cerebellar ataxia. While traditionally difficult to identify, new genomic tools and bioinformatic analyses are enabling rapid RE discovery and diagnosis. Here we characterize SCA50, an adult-onset ataxia caused by a pathogenic GAA repeat expansion within intron one of FGF14.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew J. Wallis, Ernest G. Butler, Kishore R. Tags: Article Source Type: research