Journal of Genetic Syndromes & Gene Therapy
Open Access

Abstract

Infant Spinocerebellar Ataxia Type 27: Early Presentation Due To a 13q33.1 Microdeletion Involving the FGF14 Gene

Megan E Tucker, Fayth M Kalb and Luis F Escobar

Spinocerebellar ataxia type 27 (SCA27) is caused by mutations in FGF14 and is associated with developmental delays, tremors, and ataxia, which is typically adult onset and slowly progressing. We report here the first case of a de novo microdeletion of 13q33.1 involving only the FGF14 gene in a child presenting with symptoms of SCA27 includes mild developmental delays, abnormal gait, and tremors beginning in the first year of life. Our observations confirm the role of FGF14 in the development of SCA27 and document a partial deletion of FGF14 inducing SCA27 symptoms at an early age. This report highlights the importance of considering spinocerebellar ataxias even in young children with mild neurologic symptoms and emphasize the utility of array CGH analysis as a diagnostic tool and further elucidating the phenotypic spectrum that can be seen with SCA27.