GM23633

GM23633 LCL from B-Lymphocyte

Description:

DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)

Affected:

No

Sex:

Female

Age:

72 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

GERMAN/NORWEGIAN/ENGLISH/WELSH

Family Member

Family History

Relation to Proband

aunt

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Unaffected carrier; sister and brother-in-law are also carriers with two deaf children; donor subject is heterozygous for a 1 bp deletion at nucleotide 35 of the GJB2 (Connexin 26) gene (35delG).

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

GJB2

Chromosomal Location

13q11-q12

Allelic Variant 1

121011.0005; DEAFNESS, AUTOSOMAL RECESSIVE, 1; DFNB1

Identified Mutation

1-BP DEL, 35G; A mutation consisting of deletion of 1 guanine (G) in a run of 6 guanines extending from position 30 to position 35 in the GJB2 gene has been observed by several groups. Some referred to the deleted nucleotide as 30G (the first of the 6 Gs), whereas others referred to it as 35G. The second mutation found by Carrasquillo et al. [Hum. Molec. Genet. 6: 2163-2172 (1997)] to be responsible for nonsyndromic recessive deafness (220290) in a Muslim-Israeli village in the lower Galilee was a deletion of a guanine residue at cDNA position 35 (35delG), causing a frameshift of the coding sequence leading to premature chain termination at the twelfth amino acid.

Phenotypic Data

Remarks

Unaffected carrier; sister and brother-in-law are also carriers with two deaf children; donor subject is heterozygous for a 1 bp deletion at nucleotide 35 of the GJB2 (Connexin 26) gene (35delG).