GM16469

GM16469 LCL from B-Lymphocyte

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC

Affected:

No

Sex:

Male

Age:

52 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Nucleotide and Nucleic Acid Metabolism

Class

Repair Defective and Chromosomal Instability Syndromes

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

father

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XPH107BE; father of an affected child (GM16467); donor subject is heterozygous for a 2 bp deletion in exon 5 of the XPC gene (669_670delAT) resulting in premature termination 10 codons downstream (C223fsX233)

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 1

613208.0006; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

2-BP DEL, 669AT; Slor et al. [J. Invest. Derm. 115: 974-980 (2000)] reported a homozygous A-T deletion of 2 bases (669-670) in exon 5 of the XPC gene in two Israeli sibs with severe xeroderma pigmentosum symptoms. The mutation, which was expected to encode a truncated xeroderma pigmentosumcomplementation group C protein, resulted in a new termination site 10 codons downstream. Cultured skin fibroblasts from both patients showed reductions in postultraviolet survival (11% of normal), unscheduled DNA synthesis (10% of normal), global genome DNA repair (15% of normal), and plasmid host cell reactivation (5% of normal). Transcription-coupled DNA repair was normal, however. Northern blot analysis revealed greatly reduced xeroderma pigmentosum complementation group C mRNA. Sun protection delayed the onset of skin cancer and prolonged life in the second sib.

Phenotypic Data

Remarks

Publications

Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, Digiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH, Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients. Carcinogenesis27(1):84-94 2005

PubMed ID: 16081512