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 "skin disorders" symptom

carcinoma of the gallbladder

cutaneous mastocytosis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erythropoietic protoporphyria

harlequin ichthyosis

junctional epidermolysis bullosa

kindler syndrome

lamellar ichthyosis

You can validate or delete this automatically detected symptom