Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia
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- 作者：Ahlem Sabrine Ben Brick (1)
Nadia Laroussi (1)
Hela Mesrati (2)
Rym Kefi (1)
Mbarka Bchetnia (1)
Khaled Lasram (1)
Nizar Ben Halim (1)
Lilia Romdhane (1)
Houyem Ouragini (1)
Salaheddine Marrakchi (2)
Mohamed Samir Boubaker (1)
Mounira Meddeb Cherif (3)
Daniele Castiglia (4)
Alain Hovnanian (5) (6) (7)
Sonia Abdelhak (1)
Hamida Turki (2) - 关键词：Recessive dystrophic epidermolysis bullosa severe generalized ; COL7A1 ; Novel mutations ; Founder effect
- 刊名：Archives of Dermatological Research
- 出版年：2014
- 出版时间：May 2014
- 年：2014
- 卷：306
- 期：4
- 页码：405-411
- 全文大小：
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Nadia Laroussi (1)
Hela Mesrati (2)
Rym Kefi (1)
Mbarka Bchetnia (1)
Khaled Lasram (1)
Nizar Ben Halim (1)
Lilia Romdhane (1)
Houyem Ouragini (1)
Salaheddine Marrakchi (2)
Mohamed Samir Boubaker (1)
Mounira Meddeb Cherif (3)
Daniele Castiglia (4)
Alain Hovnanian (5) (6) (7)
Sonia Abdelhak (1)
Hamida Turki (2)
1. Biomedical Genomics and Oncogenetics Laboratory (LR11IPT 05), Institut Pasteur de Tunis, Universit茅 El Manar de Tunis, 13, Place Pasteur, BP74, 1002, Tunis, Tunisia
2. Department of Dermatology, Hedi Chaker Hospital, Sfax, Tunisia
3. Laboratory of Medical Genetics, Tunis, Tunisia
4. Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell鈥橧mmacolata-IRCCS, Rome, Italy
5. INSERM, U781, Paris, France
6. Institut Imagine, University Paris Descartes, Sorbonne Paris Cit茅, Paris, France
7. Department of Genetics, Necker Hospital, Paris, France - ISSN：1432-069X
文摘
Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. One of the most severe forms of DEB is the severe generalized [recessive dystrophic epidermolysis bullosa (RDEB-SG)] subtype, which is inherited in an autosomal recessive manner. This subtype is most often due to COL7A1 mutations resulting in a premature termination codon on both alleles. We report here, the molecular investigation of 15 patients belonging to 14 nuclear families from the city of Sfax in Southern Tunisia, with clinical features of RDEB-SG complicated by squamous cell carcinoma in 3 patients. We identified two novel mutations, p.Val769LeufsX1 and p.Ala2297SerfsX91, in addition to one previously reported mutation (p.Arg2063Trp). The p.Val769LeufsX1 mutation was shared by 11 families and haplotype analysis indicated that it is a founder mutation. The p.Ala2297SerfsX91 mutation was a private mutation found in only one family. Together with the previously described recurrent mutations in Tunisia, screening for the founder p.Val769LeufsX1 mutation should provide a rapid molecular diagnosis tool for mutation screening in RDEB patients from Southern Tunisia and possibly from other Mediterranean populations sharing the same genetic background.