High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis
被引:29
作者:
Ben Rekaya, M.
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Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Ben Rekaya, M.
[1
]
Messaoud, O.
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Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Messaoud, O.
[1
]
Talmoudi, F.
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Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Talmoudi, F.
[1
]
Nouira, S.
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Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Nouira, S.
[1
]
Ouragini, H.
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Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Ouragini, H.
[1
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Amouri, A.
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Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Amouri, A.
[1
]
Boussen, H.
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Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Salah Azai Inst, Dept Med Oncol, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Boussen, H.
[1
,3
]
Boubaker, S.
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Pasteur Inst Tunis, Dept Anat Pathol, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Boubaker, S.
[2
]
Mokni, M.
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机构:
La Rabta Hosp Tunis, Dept Dermatol, Tunis, Tunisia
La Rabta Hosp Tunis, Study Hereditary Keratinizat Disorders Res Unit, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Mokni, M.
[4
,5
]
Mokthar, I.
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机构:
Habib Thameur Hosp, Dept Dermatol, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Mokthar, I.
[6
]
Abdelhak, S.
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Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Abdelhak, S.
[1
]
Zghal, M.
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机构:
Habib Thameur Hosp, Dept Dermatol, Tunis, TunisiaPasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Zghal, M.
[6
]
机构:
[1] Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
Xeroderma pigmentosum (XP, OMIM 278700-278780) is a group of autosomal recessive diseases characterized by hypersensitivity to UV rays. There are seven complementation groups of XP (XPA to XPG) and XPV. Among them, the XP group C (XP-C) is the most prevalent type in Western Europe and in the United States. We report here on the clinical and genetic investigation of XP-C patients in 14 Tunisian families. As the XPC V548A fs X572 mutation has been identified in Algerian and Moroccan populations, Tunisian patients were first screened for this mutation by a direct sequencing of exon 9 of the XPC gene. All patients with a severe clinical form had this mutation, thus showing the homogeneity of the mutational spectrum of XPC in Tunisia. A potential founder effect was searched and confirmed by haplotype analysis. Taking into account the similarity of the genetic background, we propose a direct screening of this mutation as a rapid and cost-effective tool for the diagnosis of XP-C in North Africa. Journal of Human Genetics (2009) 54, 426-429; doi: 10.1038/jhg.2009.50; published online 29 May 2009