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

Adv Exp Med Biol. 2017;980:59-66. doi: 10.1007/5584_2016_206.

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.

Keywords: ATPase family protein; Epileptic encephalopathy; Exome sequencing; Hearing loss; Mental retardation; Mutations; SPATA5; Sensorineural deficit.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Epilepsy / genetics
  • Female
  • Hearing Loss / genetics*
  • Hearing Loss, Sensorineural / genetics
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Mutation / genetics*
  • Pedigree

Substances

  • Homeodomain Proteins
  • SPATA5 protein, human
  • ATPases Associated with Diverse Cellular Activities