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2 results on '"collagenVII"'

1. Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Author

Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, and Gomathy Sethuraman

Subjects
dystrophicEB, collagenVII, wholeexomesequencing, Dermatology, RL1-803
Abstract

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.

Published
2018
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2. Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Author

Sridhar Sivasubbu, Amit K. Dinda, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Gomathy Sethuraman, Madhumita Roy Chowdhury, Vamsi K Yenamandra, Subrata Basu Ray, Ankit Verma, Vinod Sharma, Madhulika Kabra, and Vinod Scaria

Subjects
Male, 0301 basic medicine, Collagen Type VII, Heredity, Adolescent, India, wholeexomesequencing, Genomics, Dermatology, 030105 genetics & heredity, Tertiary Care Centers, Young Adult, 03 medical and health sciences, symbols.namesake, Mutation Rate, Risk Factors, Exome Sequencing, medicine, lcsh:Dermatology, Humans, Genetic Predisposition to Disease, dystrophicEB, Child, Exome sequencing, Genetics, Sanger sequencing, Massive parallel sequencing, business.industry, High-Throughput Nucleotide Sequencing, General Medicine, lcsh:RL1-803, medicine.disease, collagenVII, Epidermolysis Bullosa Dystrophica, Pedigree, genomic DNA, Dystrophic epidermolysis bullosa, Phenotype, Child, Preschool, Mutation, symbols, Female, Epidermolysis bullosa, business, Preliminary Data, Reference genome
Abstract

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.

Published
2018

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