GM20171

GM20171 LCL from B-Lymphocyte

Description:

DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39
HEPATOCYTE GROWTH FACTOR; HGF

Affected:

Yes

Sex:

Female

Age:

17 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Uncertain Biochemical Etiology

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

East Indian

Ethnicity

PAKISTANI

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; hearing loss confirmed by audiometry; product of consanguineous marriage; two affected siblings; mother is GM20170; donor subject is homozygous for a 3 bp deletion at nucleotide 1986 in intron 4 of the HGF gene (1986delTGA) predicted to encode 24 additional amino acids before encountering a stop codon

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

HGF

Chromosomal Location

7q21.1

Allelic Variant 1

142409.0002; DEAFNESS, AUTOSOMAL RECESSIVE 39

Identified Mutation

3-BP DEL, 1986TGA

Gene

HGF

Chromosomal Location

7q21.1

Allelic Variant 2

142409.0002; DEAFNESS, AUTOSOMAL RECESSIVE 39

Identified Mutation

3-BP DEL, 1986TGA

Phenotypic Data

Remarks

Publications

Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ, Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39 American journal of human genetics85:25-39 2009

PubMed ID: 19576567