The prevalence of neuromuscular disease in the paediatric population in Yorkshire, <scp>UK</scp>; variation by ethnicity and deprivation status

Woodcock, Ian R; Fraser, Lorna; Norman, Paul; Pysden, Karen; Manning, Sue; Childs, Anne‐Marie

doi:10.1111/dmcn.13096

“…This raises important questions about how boys and men with DMD from a range of minority backgrounds access information and peer support. This is a particular limitation of our study, especially given data which suggest higher rates of neuromuscular disease amongst minority ethnic communities in the United Kingdom (Woodcock et al 2016).…”

Section: Discussionmentioning

confidence: 88%

Disabled men with muscular dystrophy negotiate gender

Abbott

¹

,

Carpenter

²

,

Gibson

³

et al. 2019

Disability & Society

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Disability is often portrayed as a one-dimensional category devoid of further intersections. Work which has addressed the intersection of disability and male gender has rarely considered different types of disability or impairment, or foregrounded the experiences of disabled men themselves. This article is based on empirical work carried out in England with men who have Duchenne muscular dystrophy (DMD). We explored with participants their sense of themselves as men and their commonalities and differences with other men. Findings suggest that men with DMD claim, reject and redefine what it meant to them to be men. Doing gender was often heavily reliant on the availability and permission of others. Our study highlights the usefulness of exploring gender with men with particular experiences of disability and of looking at how this might change over a life course, especially when the nature and extent of the life course is a precarious one.

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“…Recently, we showed the carrier frequency of SMA in North India to be 2.25 % [23]. However, carrier frequency for other single gene recessive disorders is not known and signi cant differences in prevalence and pathogenic variants have been seen in different populations [54].…”

Section: Discussionmentioning

confidence: 99%

NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study.

Singh¹,

Bijarnia-Mahay²,

Ramprasad

³

et al. 2020

Preprint

0

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Background: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).Methods: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. Variants of unknown significance were not reported. Individuals were counselled explaining the implications of the results, and cascade screening was advised when necessary.Results: Of the 200 participants, 52 (26 %) were found to be carrier of one or more disorders. Twelve individuals were identified to be carriers for congenital deafness, giving a carrier frequency of one in 17 for one of the four genes tested (SLC26A4, GJB2, TMPRSS3 and TMC1 in decreasing order). Nine individuals were observed to be carriers for cystic fibrosis, with a frequency of one in 22. Three individuals were detected to be carriers for Pompe disease (frequency one in 67). None of the 88 couples screened were found to be carriers for the same disorder. The pathogenic variants observed in many disorders (such as deafness, cystic fibrosis, Pompe disease, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, medium chain acyl CoA deficiency etc.) were different from those commonly observed in the West. Conclusion: A higher carrier frequency for genetic deafness, cystic fibrosis and Pompe disease was unexpected, and contrary to the generally held view about their prevalence in Asian Indians. In spite of the small sample size, this study would suggest that population-based carrier screening panels for India would differ from those in the West, and need to be selected with due care. Testing should comprise the study of all the coding exons with its boundaries in the genes through NGS, as all the variants are not well characterized. Only study of entire coding regions in the genes will detect carriers with adequate efficiency, in order to reduce the burden of genetic disorders in India and other resource poor countries.

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“…However, carrier frequency for other single gene recessive disorders is not known and signi cant differences in prevalence and pathogenic variants have been seen in different populations [54].…”

Section: Discussionmentioning

confidence: 99%

NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study.

Singh¹,

Bijarnia-Mahay²,

Ramprasad

³

et al. 2020

Preprint

0

View full text Add to dashboard Cite

Background: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).Methods: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. Variants of unknown significance were not reported. Individuals were counselled explaining the implications of the results, and cascade screening was advised when necessary.Results: Of the 200 participants, 52 (26 %) were found to be carrier of one or more disorders. Twelve individuals were identified to be carriers for congenital deafness, giving a carrier frequency of one in 17 for one of the four genes tested (SLC26A4, GJB2, TMPRSS3 and TMC1 in decreasing order). Nine individuals were observed to be carriers for cystic fibrosis, with a frequency of one in 22. Three individuals were detected to be carriers for Pompe disease (frequency one in 67). None of the 88 couples screened were found to be carriers for the same disorder. The pathogenic variants observed in many disorders (such as deafness, cystic fibrosis, Pompe disease, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, medium chain acyl CoA deficiency etc.) were different from those commonly observed in the West. Conclusion: A higher carrier frequency for genetic deafness, cystic fibrosis and Pompe disease was unexpected, and contrary to the generally held view about their prevalence in Asian Indians. In spite of the small sample size, this study would suggest that population-based carrier screening panels for India would differ from those in the West, and need to be selected with due care. Testing should comprise the study of all the coding exons with its boundaries in the genes through NGS, as all the variants are not well characterized. Only study of entire coding regions in the genes will detect carriers with adequate efficiency, in order to reduce the burden of genetic disorders in India and other resource poor countries.

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The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status

Cited by 22 publications

References 15 publications

Disabled men with muscular dystrophy negotiate gender

Disabled men with muscular dystrophy negotiate gender

NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study.

NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study.

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