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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa
Journal of Investigative Dermatology, Volume 130, No. 6, Year 2010
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Description
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder that is associated with an inherited defect of the nucleotide excision repair pathway (NER). In this study, we investigated the involvement of XP genes in 86 XP patients belonging to 66 unrelated families, most of them consanguineous and originating from Maghreb. Sequencing analysis was performed either directly (44 probands) or after having previously characterized the involved XP gene by complementation assay (22 families). XPC and XPA mutations were respectively present in 56/66 and 8/66 probands. Strikingly, we identified the same homozygous frameshift mutation c.1643-1644delTG (p.Val548AlafsX25) in 87% of XP-C patients. Haplotype analysis showed a common founder effect for this mutation in the Mediterranean region, with an estimated age of 50 generations or 1,250 years. Among 7/8 XP-A patients, we found the previously reported nonsense homozygous XPA mutation (p.Arg228X). Six mutationsto our knowledge previously unreported(five in XPC, one in XPA) were also identified. In conclusion, XPC appears to be the major disease-causing gene concerning xeroderma pigmentosum in North Africa. As the (p.Val548AlafsX25) XPC mutation is responsible for a huge proportion of XP cases, our data imply an obvious simplification of XP molecular diagnosis, at least in North Africa. © 2010 The Society for Investigative Dermatology.
Authors & Co-Authors
Soufir, Nadem
France, Paris
Hôpital Bichat-claude-bernard Ap-hp
Ged, Cécile M.
France, Paris
Inserm
France, Bordeaux
Université de Bordeaux
France, Bordeaux
Groupe Hospitalier Pellegrin
Bourillon, Agnes
France, Paris
Hôpital Bichat-claude-bernard Ap-hp
Austerlitz, Frédéric
France, Orsay
Laboratoire Écologie, Systématique et Évolution
Chemin, Cécile
France, Paris
Inserm
France, Bordeaux
Université de Bordeaux
France, Bordeaux
Groupe Hospitalier Pellegrin
Stary, Anne
France, Villejuif
Intégrité du Génome et Cancers
Armier, Jacques
France, Villejuif
Intégrité du Génome et Cancers
Pham, Daniele
France, Villejuif
Intégrité du Génome et Cancers
Khadir, Khadija
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Roume, Joëlle
France, Poissy
Centre Hospitalier Intercommunal Poissy-st-germain-en-laye
Hadj-Rabia, Smaïl
France, Paris
Hôpital Necker Enfants Malades
Bouadjar, Bakar
Algeria, Algiers
Centre Hospitalo-universitaire Mohamed Lamine Debaghine
Taïeb, Alain B.
France, Paris
Inserm
France, Bordeaux
Université de Bordeaux
France, Bordeaux
Groupe Hospitalier Pellegrin
de Verneuil, Hubert
France, Paris
Inserm
France, Bordeaux
Université de Bordeaux
France, Bordeaux
Groupe Hospitalier Pellegrin
Benchiki, Hakima
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Grandchamp, Bernard
France, Paris
Hôpital Bichat-claude-bernard Ap-hp
Sarasin, Alain
France, Orsay
Laboratoire Écologie, Systématique et Évolution
Statistics
Citations: 85
Authors: 17
Affiliations: 10
Identifiers
Doi:
10.1038/jid.2009.409
ISSN:
0022202X
e-ISSN:
15231747
Research Areas
Cancer
Genetics And Genomics
Study Locations
Multi-countries