Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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TURKISH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
613208.0008; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS3AS,T>A,-9; In 2 sibs with xeroderma pigmentosum and multiple skin cancers from a consanguineous Turkish family, Khan et al. (Hum Molec Genet 13(3):343-352, 2004) identified homozygosity for a -9T-A transversion in intron 3 of the XPC gene. The mutation was located in a splice lariat branchpoint sequence. PCR analysis of fibroblast cells detected an XPC mRNA isoform with deletion of exon 4 that had no DNA repair activity in a post-UV host cell reactivation assay. |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
613208.0008; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS3AS,T>A,-9; In 2 sibs with xeroderma pigmentosum and multiple skin cancers from a consanguineous Turkish family, Khan et al. (Hum Molec Genet 13(3):343-352, 2004) identified homozygosity for a -9T-A transversion in intron 3 of the XPC gene. The mutation was located in a splice lariat branchpoint sequence. PCR analysis of fibroblast cells detected an XPC mRNA isoform with deletion of exon 4 that had no DNA repair activity in a post-UV host cell reactivation assay. |
| Remarks |
XP100TMA; Turkish; clinically affected; basal cell carcinomas; malignant melanoma; malignant lentigo; affected sister is GM15716; see GM15709 Fibro; skin legions onset at age 3 yrs; atrophy; telangiectasias; actinic keratosis; hypopigmentation; consanguinity; donor subject is homozygous for a T>A transversion in intron 3 of the XPC gene (IVS3-9T>A) located within the splice lariat branchpoint sequence resulting in a deleted exon 4 and a stop 3 codons downstream |
| 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 |
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| Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH, Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet13(3):343-52 2003 |
| PubMed ID: 14662655 |
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