Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

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.

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Mutation Detection of Fibroblast Growth Factor Receptor 3 for Infiltrative Hepatocellular Carcinoma by Whole-Exome Sequencing

Digestive Diseases and Sciences ◽

10.1007/s10620-016-4408-7 ◽

2017 ◽

Vol 62 (2) ◽

pp. 407-417 ◽

Cited By ~ 2

Author(s):

Xiaopeng Yan ◽

Cong Shao ◽

Chuang Chen ◽

Jun Chen ◽

Shen Gu ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Growth Factor ◽

Exome Sequencing ◽

Fibroblast Growth Factor ◽

Whole Exome Sequencing ◽

Mutation Detection ◽

Fibroblast Growth Factor Receptor ◽

Growth Factor Receptor ◽

Fibroblast Growth ◽

Whole Exome

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Identification of a de novo mutation in KRT5 gene underlying epidermolysis bullosa simplex by whole exome sequencing in a Vietnamese patient

Vietnam Journal of Biotechnology ◽

10.15625/1811-4989/16111 ◽

2021 ◽

Vol 19 (2) ◽

pp. 223-228

Author(s):

Ma Thi Huyen Thuong ◽

Dang Tien Truong ◽

Nguyen Hai Ha ◽

Nguyen Dang Ton

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

De Novo ◽

Recurrence Risk ◽

Pathogenic Mutation ◽

De Novo Mutation ◽

Causative Mutation ◽

Epidermolysis Bullosa Simplex ◽

Whole Exome

Epidermolysis bullosa simplex (EBS) is a group of epidermolysis bullosa (EB) and accounts for 75-85% EB cases. Most EBS patients are caused by mutations in KRT5 or KRT14, encoding for keratin 5 and keratin 14, respectively, which impair the structural entirety of paired intermediate filaments expressed in the fracture of basal keratinocytes and subsequent blistering of the epithelium. This study aimed to identify the causative mutation in a Vietnamese EB case. Whole exome sequencing (WES) was performed in the affected individual and revealed a de novo heterozygous pathogenic mutation in exon 7 of KRT5 gene, resulting in an amino acid change at position 477, with glutamic acid to lysine substitution (p.E477K). The KRT5 p.E477K was strong associated with the very severe or lethal of generalized severe EBS (GS-EBS), characterized by the severe symptoms at birth, improving with age and evolution to palmoplantar keratoderma and nail dysplasia. Our finding will aid the molecular diagnosis, prognosis prediction of the patient with GS-EBS due to p.E477K and significant genetic counselling the family concerning the recurrence risk for future pregnancies.

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