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

Related Articles

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

Adv Exp Med Biol. 2017 Mar 15;:

Authors: Szczałuba K, Szymańska K, Kosińska J, Pollak A, Murcia V, Kędra A, Stawiński P, Rydzanicz M, Demkow U, Płoski R

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.

PMID: 28293831 [PubMed - as supplied by publisher]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/2m433uQ
via IFTTT