Abstract
Biallelic mutations in the SPATA5 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 SPATA5 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 SPATA5-associated diseases and indicate that SPATA5 defects may account for a fraction of isolated sensorineural hearing impairment cases.
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Supported by the National Science Center (NCN) grant 2013/11/B/NZ7/04944
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Szczałuba, K. et al. (2017). Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression. In: Pokorski, M. (eds) Respiratory System Diseases. Advances in Experimental Medicine and Biology(), vol 980. Springer, Cham. https://doi.org/10.1007/5584_2016_206
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DOI: https://doi.org/10.1007/5584_2016_206
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