Study of dystrophinopathy in eastern Uttar Pradesh population of India

Kumari, Preeti; Joshi, Deepika; Shamal, Satya Narayan; Singh, Royana

doi:10.4103/jpn.jpn_159_17

Cited by 2 publications

(1 citation statement)

References 19 publications

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“…In the case of Duchenne muscular dystrophy (DMD), a wide spectrum of mutations and frequencies have been shown in patients from different Indian sub-populations [164–166]. The dystrophin gene spans over 2000 kb at the DNA level, with pathogenic variations identified within introns as well.…”

Section: Main Textmentioning

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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Mutation spectrum of Duchenne muscular dystrophy patients in Indian population

Mathur¹,

Agarwal²,

Goyal³

et al. 2020

Indian J Child Health

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Background: Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disorder in children. Since the novel, DMD therapies are mutation-specific, so detection of mutation is of paramount importance in planning the treatment of DMD patients. Objective: The objective of this study was to find different mutations present in DMD patients in Indian population. Materials and Methods: This study was a hospital-based retrospective observational study conducted from December 2018 to December 2019 in the pediatric department of a tertiary hospital of western India. A total of 52 children age 2-16 years, presenting with progressive muscle weakness, were included in the study. DMD multiplex ligation-dependent probe amplification (MLPA) for 79 exons was done for detection of deletion/duplication for all patients. Whole DMD gene sequencing was done for those who were found MLPA negative for DMD gene mutation (deletion/duplication). Results: Our study states that most of the DMD patients presented with deletions (84%) or duplications (11%) in the dystrophin gene, and remaining due to point mutation. The study shows that most of the mutations occur due to deletions (67.30%) in DMD gene at distal hotspot 45-52 exons and deletions (15.38%) in DMD gene at proximal hotspot 10-19 exons. In addition, to expanding the mutational spectrum of DMD, these results establish improved mutations data in the Indian population. Conclusion: The novel developed therapies for DMD are mutation-specific, so molecular diagnostic tests are very important in diagnosis and categorization for the prevalent mutations in the Indian population.

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Study of dystrophinopathy in eastern Uttar Pradesh population of India

Cited by 2 publications

References 19 publications

Genomics of rare genetic diseases—experiences from India

Genomics of rare genetic diseases—experiences from India

Mutation spectrum of Duchenne muscular dystrophy patients in Indian population

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