GM11409

GM11409 LCL from B-Lymphocyte

Description:

PIEBALD TRAIT; PBT
V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT

Affected:

Yes

Sex:

Male

Age:

40 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Alternate IDs

GM17369 [PIEBALD TRAIT; PBT]

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

ASHKENAZI

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Ashkenazi; 6 aff generations; patches of absent pigmentation on chest, abdomen, & limbs; no anemia; others in kindred have white forelock &/or constipation; heterozygous for a GGG(gly)>AGG(Arg) substitution at codon 664 [Gly664Arg (G664R)] of c-kit proto-oncogene (KIT)

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.

Gene

KIT

Chromosomal Location

4q12

Allelic Variant 1

164920.0001; PIEBALDISM

Identified Mutation

GLY664ARG; Reasoning that human piebaldism (172800), like mouse dominant white spotting (W), might be a result of mutation in the KIT gene, Spritz and Giebel [Am. J. Hum. Genet. 49 (Supplement): 38 (1991)] and Giebel and Spritz [Proc. Natl. Acad. Sci., USA 88: 8696-8699 (1991)] designed primers for PCR amplification of the 21 coding exons. Studies of DNA from a patient with classic autosomal dominant piebaldism showed that he was heterozygous for a single base change, resulting in a glycine-to-arginine substitution at codon 664, within the ATP-binding site of the tyrosine kinase domain.