Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.

[dystrophic epidermolysis bullosa]

Dystrophic epidermolysis bullosa (DEB ) is a group of heritable bullous skin disorders caused by mutations in the COL 7 A 1 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 COL 7 A 1 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 .Val 769 LeufsX 1 and p .Ala 2297 SerfsX 91 , in addition to one previously reported mutation (p .Arg 2063 Trp ). The p .V al 769 LeufsX 1 mutation was shared by 11 families and haplotype analysis indicated that it is a founder mutation . The p .A la 2297 SerfsX 91 mutation was a private mutation found in only one family . Together with the previously described recurrent mutations in Tunisia , screening for the founder p .V al 769 LeufsX 1 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 .

Diseases
Validation

Diseases presenting "same genetic background" symptom

dystrophic epidermolysis bullosa

primary hyperoxaluria type 1

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