Case Report : Whole exome sequencing reveals a novel frameshift deletion mutation p . G 2254 fs in associated COL 7 A 1
نویسندگان
چکیده
Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB) is more severe. In the present study, we identify a novel p.G2254fs mutation in gene causing a sporadic case of RDEB by whole exome sequencing COL7A1 (WES). Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India. This article is included in the Rare diseases collection. 1,4 1 1 2 1 1 1,4
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