Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

Biallelic mutations in the gene, encoding ATPase family protein, are an important cause of newly recognized epileptic encephalopathy classified as epilepsy, hearing loss, and mental retardation syndrome (EHLMRS, OMIM: 616577). Herein we describe a family in which two duanyu1842TA5 mutations with established pathogenicity (p.Thr330del and c.1714+1G>A) were found in the proband and her younger sister. The proband had a similar clinical picture to the previous descriptions of EHLMRS. In the sister, the only manifestation was an isolated sensorineural hearing loss. Our findings extend the phenotypic spectrum of diseases and indicate that duanyu1842TA5 defects may account for a fraction of isolated sensorineural hearing impairment cases.

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