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.


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


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