The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India

被引：1

作者：

Vishnu, Venugopalan Y. ^{[1
]}

Lemmers, Richard J. L. F. ^{[2
]}

Reyaz, Alisha ^{[1
]}

Mishra, Rinkle ^{[1
]}

Ahmad, Tanveer ^{[1
]}

van der Vliet, Patrick J. ^{[2
]}

Kretkiewicz, Marcelina M. ^{[2
]}

Macken, William L. ^{[3
,4
]}

Efthymiou, Stephanie ^{[5
,6
]}

Dominik, Natalia ^{[5
,6
]}

Morrow, Jasper M. ^{[5
,6
]}

Bhatia, Rohit ^{[1
]}

Wilson, Lindsay A. ^{[5
,6
]}

Houlden, Henry ^{[5
,6
]}

Hanna, Michael G. ^{[3
,4
]}

Bugiardini, Enrico ^{[5
,6
]}

van der Maarel, Silvere M. ^{[2
]}

Srivastava, M. V. Padma ^{[1
]}

机构：

[1] All India Inst Med Sci AIIMS, Dept Neurol, New Delhi, Delhi, India

[2] Leiden Univ Med Ctr LUMC, Dept Human Genet, Leiden, Netherlands

[3] UCL, Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

[4] Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, NHS Highly Specialised Serv Rare Mitochondrial Dis, London, England

[5] Queen Sq UCL Inst Neurol, Dept Neuromuscular Dis, London, England

[6] Natl Hosp Neurol & Neurosurg, London, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷 / 9期

基金：

英国医学研究理事会;

关键词：

ACCURATE DIAGNOSIS; COPY NUMBER; D4Z4; PENETRANCE; MODIFIER; VARIANT; REPEAT; SMCHD1;

D O I：

10.1038/s41431-024-01577-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1053 / 1064

页数：12

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