Founder mutations in xeroderma pigmentosum.
In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP.
Tamura
Deborah
D
Dermatology Branch, National Cancer Institute, Bethesda, MD 20892, USA.
DiGiovanna
John J
JJ
Kraemer
Kenneth H
KH
D000352:Africa, Northern / Q000453:epidemiology; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D018703:Founder Effect; D005817:Genetic Counseling; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D014983:Xeroderma Pigmentosum / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*
D004268:DNA-Binding Proteins; C086984:XPC protein, human
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