Unknown

Dataset Information

0

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

ABSTRACT: Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, -3438C-->T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.

SUBMITTER: Matos TD 

PROVIDER: S-EPMC2752183 | biostudies-literature | 2007 Nov

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

Matos T D TD   Caria H H   Simões-Teixeira H H   Aasen T T   Nickel R R   Jagger D J DJ   O'Neill A A   Kelsell D P DP   Fialho G G  

Journal of medical genetics 20070727 11

Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, -3438C-->T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlig  ...[more]

Similar Datasets

Unknown Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.
| S-EPMC6996670 | biostudies-literature
Unknown Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
| S-EPMC3080436 | biostudies-literature
Unknown Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation.
| S-EPMC7416285 | biostudies-literature
Unknown A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
| S-EPMC5584103 | biostudies-literature
Unknown A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss.
| S-EPMC4499094 | biostudies-literature
Unknown Diagnostic pitfalls for <i>GJB2</i>-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.
| S-EPMC6230644 | biostudies-literature
Unknown Functional evaluation of GJB2 variants in nonsyndromic hearing loss.
| S-EPMC3105137 | biostudies-other
Unknown A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.
| S-EPMC3765306 | biostudies-literature
Unknown Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
| S-EPMC1377046 | biostudies-other
Unknown GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
| S-EPMC4456361 | biostudies-literature