Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation.

ABSTRACT:

Objective

To report the phenotypic heterogeneity of GJB2 c.235delC homozygotes associated with post-lingual and/or milder hearing loss, and explore the possible mechanism of these unconditional phenotypes.

Methods

Mutation screening of GJB2 was performed on all ascertained members from Family 1006983 and three sporadic patients by polymerase chain reaction (PCR) amplification and Sanger sequencing. Next generation sequencing (NGS) was successively performed on some of the affected members and normal controls from Family 1006983 to explore additional possible genetic codes. Reverse transcriptase-quantitative PCR was conducted to test the expression of Connexin30.

Results

We identified a Chinese autosomal recessive hearing loss family with the GJB2

SUBMITTER: Wang H 

PROVIDER: S-EPMC7953049 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature