Dataset Information
Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.
Ontology highlight
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.
SUBMITTER: Lan X
PROVIDER: S-EPMC6922571 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Publications
Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.
Medicine 20191201 50
<h4>Rationale</h4>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.<h4>Patient concerns</h4>A propositus was diagnosed as ARNSHL with bilateral congenital profound hearing loss.<h4>Diagnosis</h4>With microarray and target gene sequencing testing methods, a novel GJB2 mutant was found to be associated with ARNSHL in this Han C ...[more]