GM11637

GM11637 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

19 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

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

Ethnicity

HUNGARIAN

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XP24BE; freckling; atrophy; numerous skin cancers including 1 malignant melanoma & more than 100 basal cell carcinomas; no neurological abnormalities; see GM11638 Fibroblast; donor subject is a compound heterozygote: the maternal allele has an A>G transition at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>G) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream and the deletion of exon 5.2 with a stop 7 codons downstream; the paternal allele has a C>T transition at nucleotide 568 in exon 4 (568C>T) resulting in nonsense mutation at Arg155 [Arg155Ter (R155X)]

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 1

83 bp ins/stop 34 codons downstream/del ex 5.2/stop 7 codons downstream; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

IVS5.1-2A>G

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 2

R155X; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

ARG155TER

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

Parshad R, Sanford KK, Kraemer KH, Jones GM, Tarone RE, Carrier detection in xeroderma pigmentosum. J Clin Invest85:135-8 1990

PubMed ID: 2295692

Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL, Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med318:1633-7 1988

PubMed ID: 3287161