title: Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa.
abstract: 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 COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (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.
authors: Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research, CSIR-IGIB South Campus, Delhi, India.
authors: Shamsudheen
authors: S
authors: Karuthedath Vellarikkal
authors: Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors: Rijith
authors: R
authors: Jayarajan
authors: Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors: Ankit
authors: A
authors: Verma
authors: Department of Fetal Medicine, Lifeline Super Specialty Hospital, Kerala, India.
authors: Sreelata
authors: S
authors: Nair
authors: Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors: Rowmika
authors: R
authors: Ravi
authors: Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors: Vigneshwar
authors: V
authors: Senthivel
authors: Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research, CSIR-IGIB South Campus, Delhi, India.
authors: Sridhar
authors: S
authors: Sivasubbu
authors: GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research, CSIR-IGIB South Campus, Delhi, India.
authors: Vinod
authors: V
authors: Scaria
keywords: Collagen VII mutation; Dystrophic epidermolysis bullosa; simplex whole exome sequencing