High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis

被引:29
作者
Ben Rekaya, M. [1 ]
Messaoud, O. [1 ]
Talmoudi, F. [1 ]
Nouira, S. [1 ]
Ouragini, H. [1 ]
Amouri, A. [1 ]
Boussen, H. [1 ,3 ]
Boubaker, S. [2 ]
Mokni, M. [4 ,5 ]
Mokthar, I. [6 ]
Abdelhak, S. [1 ]
Zghal, M. [6 ]
机构
[1] Pasteur Inst Tunis, Mol Invest Genet Orphan Dis Res Unit, Tunis, Tunisia
[2] Pasteur Inst Tunis, Dept Anat Pathol, Tunis, Tunisia
[3] Salah Azai Inst, Dept Med Oncol, Tunis, Tunisia
[4] La Rabta Hosp Tunis, Dept Dermatol, Tunis, Tunisia
[5] La Rabta Hosp Tunis, Study Hereditary Keratinizat Disorders Res Unit, Tunis, Tunisia
[6] Habib Thameur Hosp, Dept Dermatol, Tunis, Tunisia
关键词
founder effect; genetic counseling; molecular diagnosis; recurrent mutation; xeroderma pigmentosum; XERODERMA-PIGMENTOSUM; GROUP-C; GENE; PROTEIN; PROTECTION; FAMILIES; COMPLEX; CELLS;
D O I
10.1038/jhg.2009.50
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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
引用
收藏
页码:426 / 429
页数:4
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