Compound heterozygous variants in SPNS2 cause sensorineural hearing loss

Eur J Med Genet. 2023 Jan;66(1):104658. doi: 10.1016/j.ejmg.2022.104658. Epub 2022 Dec 6.

Abstract

Hearing Loss (HL) is one of the most prevalent congenital diseases in humans and is etiologically highly heterogeneous. To date, over 360 genes have been identified that are involved in mouse or human deafness. SPNS2 is one of these genes that has been attributed to deafness in recent years. In this study, we identified two novel damaging variants of c.906G>A; p.(Trp302*) and c.487G>A; p.(Asp163Asn) in the SPNS2 gene in an eight-year-old female with bilateral sensorineural hearing loss who also presents with congenital hypothyroidism and coronary heart disease. Sanger sequencing confirmed that the variants are compound heterozygote. In addition, in silico analysis by various tools predicted that these variants are damaging. To date, these detected variants have not been reported in any of the existing public databases. We hope that identification of more variants in SPNS2 provide new insights into its role in deafness.

Keywords: Hearing loss; SPNS2; WES.

Publication types

  • Case Reports

MeSH terms

  • Animals
  • Anion Transport Proteins / genetics
  • Child
  • Deafness* / genetics
  • Female
  • Hearing Loss* / genetics
  • Hearing Loss, Sensorineural* / genetics
  • Heterozygote
  • Humans
  • Mice
  • Mutation
  • Pedigree

Substances

  • Spns2 protein, human
  • Anion Transport Proteins
  • Spns2 protein, mouse