Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment

Clin Genet. 2023 Oct;104(4):499-501. doi: 10.1111/cge.14390. Epub 2023 Jun 13.

Abstract

A short report with two affected siblings from consanguineous family born with intellectual disability, motor disability, language deficit, and hearing impairment and found to carry biallelic nonsense variant in KPTN gene known to be associated with KPTN gene related syndrome.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Consanguinity
  • Hearing Loss* / genetics
  • Humans
  • Intellectual Disability* / genetics
  • Microfilament Proteins / genetics
  • Motor Disorders*
  • Pedigree
  • Persons with Disabilities*
  • Phenotype
  • Syndrome

Substances

  • KPTN protein, human
  • Microfilament Proteins