Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family

Medicine (Baltimore). 2019 Dec;98(50):e18253. doi: 10.1097/MD.0000000000018253.

Abstract

Rationale: Molecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL.

Patient concerns: A propositus was diagnosed as ARNSHL with bilateral congenital profound hearing loss.

Diagnosis: With microarray and target gene sequencing testing methods, a novel GJB2 mutant was found to be associated with ARNSHL in this Han Chinese family.

Interventions/outcomes: Based on the finding in this research, prenatal screening of GJB2 mutation and genetic counseling are recommended to this family for their next pregnancy. Our interventions allow the family to plan informatively.

Lessons: In this family, we discovered 2 heterozygous carriers of c.113T>C variation in the GJB2 gene. The propositus, who had profound hearing loss, had inherited the c.113T>C variation from his normal mother and the c.235delC from his father.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • China / epidemiology
  • Connexin 26
  • Connexins / genetics*
  • Connexins / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis
  • Deafness / diagnosis
  • Deafness / ethnology
  • Deafness / genetics*
  • Ethnicity*
  • Female
  • Humans
  • Infant
  • Male
  • Mutation*
  • Otoacoustic Emissions, Spontaneous / physiology
  • Pedigree
  • Prevalence

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26
  • DNA

Supplementary concepts

  • Nonsyndromic Deafness