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Article

A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

DNA repair - 10 Jun 2011

Cartault François, Nava Caroline, Malbrunot Anne-Claire, Munier Patrick, Hebert Jean-Christophe, N'guyen Patrick, Djeridi Nadia, Pariaud Philippe, Pariaud Joelle, Dupuy Aurélie, Austerlitz Frédéric, Sarasin Alain

Abstract excerpt

Xeroderma pigmentosum (XP) is a rare, recessive disease characterized by sunlight hypersensitivity and early appearance of cutaneous and ocular malignancies. We report the first description of a very high incidence (around 1/5000) of black XP patients in the Mayotte population in the Indian Ocean. Among a cohort of 32 XP, we describe the clinical and genetic features of 18 living Comorian black XP patients. We...

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Identifiers

PMID: 21482201
DOI: 10.1016/j.dnarep.2011.03.005

Genes

XPC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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