Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 1 |
R425X; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
ARG425TER |
| |
| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 2 |
133510.0002; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
PHE99SER; Vermeulen et al. [Am. J. Hum. Genet. 54: 191-200 (1994)] demonstrated that the two brothers with atypical xeroderma pigmentosum reported by Scott et al. [J. Am. Acad. Derm. 29: 883-889 (1993)] represented XPB patients, by microneedle injection of the cloned ERCC3 repair gene and by cell hybridization. They identified a phe99-to-ser missense mutation in the ERCC3 protein. |
| Remarks |
Clinically affected; mild XP without Cockayne Syndrome; sun sensitivity; freckle-like pigmentation on sun exposed sites which developed in childhood; multiple basal cell carcinomas the first of which was diagnosed at age 28 years; ocular malignant melanoma at age 22 years (choroidal melanoma arising near the ciliary body and invading the iris of left eye requiring enucleation); retina was otherwise normal without pigmentary retinal degeneration; conjunctival pterygium, a vascularized mass requiring corneal grafting; progressive bilateral sensorineural deafness detected in childhood requiring hearing aids from age 17 years; normal intelligence, but difficult to access because of the hearing loss; normal stature; normal sexual development; affected sister; mother of three normal children; see GM21071 Fibroblast; donor subject is a compound heterozygote: the maternal allele has a substitution of C>T at nucleotide 1273 in exon 8 of the ERCC3 gene (c.1273C>T) resulting in an arginine at position 425 being converted to a stop codon [Arg425Ter (R425X)] and the paternal allele has a T>C change at nucleotide 296 in exon 3 (c.296T>C) resulting in phenylalanine at position 99 being converted to a serine [Phe99Ser (F99S)] |
| Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH, Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome HUMAN MUTATION27(11):1092-103 2006 |
| PubMed ID: 16947863 |
|