Journal
ACTA DERMATO-VENEREOLOGICA
Volume 98, Issue 9, Pages 873-879Publisher
ACTA DERMATO-VENEREOLOGICA
DOI: 10.2340/00015555-2929
Keywords
dystrophic EB; collagen VII; whole exome sequencing
Categories
Funding
- Department of Science and Technology, New Delhi, India (DST) [D-334]
- Indian Council of Medical Research, New Delhi, India (ICMR) [I-817]
- Council of Scientific and Industrial Research (CSIR), India [BSC0212]
Ask authors/readers for more resources
Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses. The aim of this study was to explore the potential of molecular studies in dystrophic epidermolysis bullosa (DEB) in India. Whole exome sequencing was performed using genomic DNA from each case of epidermolysis bullosa, followed by massively parallel sequencing. Resulting reads were mapped to the human reference genome hg19. Sanger sequencing subsequently confirmed the potentially pathogenic mutations. Whole exome sequencing of 18 patients with DEB from 17 unrelated Indian families revealed 20 distinct sequence variants in the COL7A1 gene including 2 widely prevalent mutations. Dominant inheritance was seen in 7 patients, while 11 patients showed a highly variable recessive DEB. This preliminary study using exome sequencing is clearly encouraging and will serve as the basis for future large-scale molecular studies to actively identify and understand DEB in the Indian population.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available