Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa

Vellarikkal, Shamsudheen Karuthedath; Jayarajan, Rijith; Verma, Ankit; Nair, Sreelata; Ravi, Rowmika; Senthivel, Vigneshwar; Sivasubbu, Sridhar; Scaria, Vinod

doi:10.12688/f1000research.8380.1

Cited by 3 publications

(2 citation statements)

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“…In the case of DEB, 18 patients from 17 unrelated families were studied and 20 distinct variations were found in COL7A1 gene [143]. There have also been other reports which discovered novel variants that expanded the known mutation spectrum of EB [141, 154].…”

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confidence: 99%

Genomics of rare genetic diseases—experiences from India

Sivasubbu

Scaria

2019

Hum Genomics

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Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of consanguinity, not only makes the Indian population distinct from rest of the world but also provides a unique advantage and niche to understand genetic diseases. Centuries of genetic isolation of population groups have amplified the founder effects, contributing to high prevalence of recessive alleles, which translates into genetic diseases, including rare genetic diseases in India. Rare genetic diseases are becoming a public health concern in India because a large population size of close to a billion people would essentially translate to a huge disease burden for even the rarest of the rare diseases. Genomics-based approaches have been demonstrated to accelerate the diagnosis of rare genetic diseases and reduce the socio-economic burden. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India. The consortium aims to establish a unique collaborative framework in health care planning, implementation, and delivery in the specific area of rare genetic diseases. It is a nation-wide collaborative research initiative catering to rare diseases across multiple cohorts, with over 240 clinician/scientist collaborators across 70 major medical/research centers. Within the GUaRDIAN framework, clinicians refer rare disease patients, generate whole genome or exome datasets followed by computational analysis of the data for identifying the causal pathogenic variations. The outcomes of GUaRDIAN are being translated as community services through a suitable platform providing low-cost diagnostic assays in India. In addition to GUaRDIAN, several genomic investigations for diseased and healthy population are being undertaken in the country to solve the rare disease dilemma. In summary, rare diseases contribute to a significant disease burden in India. Genomics-based solutions can enable accelerated diagnosis and management of rare diseases. We discuss how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India.

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Section: Main Textmentioning

confidence: 99%

Genomics of rare genetic diseases—experiences from India

Sivasubbu

Scaria

2019

Hum Genomics

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“…Recessive dystrophic epidermolysis bullosa (RDEB; OMIM: 226600) is an extremely uncommon and severe genetic bullous dermatosis 1 . RDEB is characterized by lack of adhesion of the epidermis to the dermis, caused by mutations in the COL7A1 on chromosome 3, which encodes type VII collagen, an extracellular matrix (ECM) adhesion protein 2,3 .…”

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confidence: 99%

Haplotype‐based non‐invasive prenatal diagnosis of recessive dystrophic epidermolysis bullosa via targeted capture sequencing of maternal plasma

Wang

Gao

Cao

et al. 2023

The Journal of Dermatology

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Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe hereditary skin disease, caused by mutations in the COL7A1. However, whether non‐invasive prenatal testing (NIPT) can be used for this monogenic genodermatosis remains unknown. Accordingly, we conducted a study in which one couple at high risk of having a fetus with RDEB were recruited and tested by haplotyping‐based NIPT. Next‐generation sequencing‐based multi‐gene panel testing was carried out in this couple and their first child as proband who was affected with RDEB. We deduced parental haplotypes via single nucleotide polymorphism (SNP)‐based haplotype linkage analysis. Then the maternal plasma cell‐free DNA was also sequenced to determine the fetal haplotypes using a parental haplotype‐assisted hidden Markov model (HMM) analysis. Results show that the fetus was only a heterozygous mutation carrier in COL7A1 and the identical results were obtained after birth. These results demonstrate that haplotyping‐based NIPT is a feasible method for NIPT of RDEB.

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