Xeroderma Pigmentosum, Complementation Group C

Alternative Names

  • XPC
  • XPCC
  • XP, Group C
  • Xeroderma Pigmentosum III
  • XP3
  • XPC Gene
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

278720

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3p25

Description

Xeroderma pigmentosum (XP) is characterized by hyperphotosensitivity to the UV constituent of sunlight. The hallmark of XP is a predisposition to skin neoplasia, with a >1,000-fold incidence of UV-induced squamous cell carcinoma and malignant melanoma. Classical XP is caused by mutations in one of seven genes XPA-XPG.

Molecular Genetics

XPA, XPC and XPD all encode proteins that are part of the nucleotide excision repair pathway. The XPC protein complex is a DNA damage detector of human nucleotide excision repair (NER). Although the XPC complex specifically binds to certain damaged sites, it also binds to undamaged DNA in a non-specific manner.

Inactivating XPC mutations are associated with xeroderma pigmentosa and an extremely high risk of skin cancer. A common polymorphism in intron 9 of the XPC gene has been associated with both reduced repair of UV-DNA damage (using the host-cell reactivation assay) and increased risk of squamous cell head and neck cancer.

 

Epidemiology in the Arab World

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Other Reports

Egypt

El-Hefnawi and Smith (1965) and El-Hefnawi et al. (1965) presented useful Egyptian pedigrees, possibly of complementation groups A and C, and suggested linkage with the ABO blood group locus. Bootsma and Keijzer (1979) studied eight patients from six Egyptian families. Three were assigned to complementation group A and five to group C.

[Bootsma D, Keijzer W. Genetic analysis of xeroderma pigmentosum including Egyptian families. (Abstract) Cytogenet Cell Genet. 1979; 25:139.]

Hashem et al. (1980) conducted a survey of DNA repair characteristics among Egyptians with xeroderma pigmentosum. Out of 16 XP patients, biopsies from eight were analyzed for unscheduled DNA synthesis, strand breakage during pyrimidine dimer excision, and complementation groups. The patients were equally distributed between Complementation Groups A and C. Unscheduled synthesis and strand breaks were significantly higher in Group C than in Group A cells. Central nervous system disorders were found in all of the Group A patients and in none of the Group C patients. No clinical symptoms were observed in the heterozygotes. A 2-month-old sib of an XP patient was free of symptoms, but unscheduled synthesis and strand breakage in cultures from this sib were the same as in the related XP homozygote.

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