Vishnu, Venugopalan Y;
Lemmers, Richard JLF;
Reyaz, Alisha;
Mishra, Rinkle;
Ahmad, Tanveer;
van der Vliet, Patrick J;
Kretkiewicz, Marcelina M;
... Srivastava, MV Padma; + view all
(2024)
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
european journal of human genetics
10.1038/s41431-024-01577-z.
(In press).
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Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world’s population lives in Asia, so a significant percentage of the world’s FSHD participants is expected to live there. To date, most FSHD studies have involved individuals of European descent, yet small-scale studies of East-Asian populations suggest that the likelihood of developing FSHD may vary. Here, we present the first genetically confirmed FSHD cohort of Indian ancestry, which suggests a pathogenic FSHD1 allele size distribution intermediate between European and North-East Asian populations and more asymptomatic carriers of 4 unit and 5 unit FSHD1 alleles than observed in European populations. Our data provides important evidence of differences relevant to clinical diagnostics and underscores the need for global FSHD participation in research and trial-ready Indian FSHD cohorts.
| Type: | Article |
|---|---|
| Title: | The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41431-024-01577-z |
| Publisher version: | http://dx.doi.org/10.1038/s41431-024-01577-z |
| Language: | English |
| Additional information: | Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, ACCURATE DIAGNOSIS, COPY NUMBER, D4Z4, PENETRANCE, MODIFIER, VARIANT, REPEAT, SMCHD1 |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10191769 |
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