Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.

Autor: Gaviraghi T; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Cavalcanti EBU; Rede SARAH de Hospitais de Reabilitação, Brasília, Brazil., Lorenzoni PJ; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Cotta A; Rede SARAH de Hospitais de Reabilitação, Belo Horizonte, Brazil., de Souza PVS; Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, São Paulo, Brazil., de Oliveira AD; Neurology Division, Hospital Universitário Polydoro Ernani de São Thiago, Florianópolis, Brazil., de Moraes MT; Neurology and Neurophysiology Division, Instituto de Neurologia de Curitiba/Hospital-Ecoville, Curitiba, Brazil., Marques MVO; Neurology Division, Centro Integrado de Saúde, São Paulo, Brazil., Donis KC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Winckler PB; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Costa E Silva C; Rede SARAH de Hospitais de Reabilitação, Brasília, Brazil., Pinto WBVR; Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, São Paulo, Brazil., Kay CSK; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Ducci RD; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Rodrigues PRVP; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Fustes OJH; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., da Silva AMS; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., França MC Jr; Department of Neurology, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.; Graduate Program in Medical Physiopathology, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil., Sobreira CFR; Department of Neurosciences, Ribeirão Preto Medical School, Universidade de São Paulo, Ribeirão Preto, Brazil., Oliveira ASB; Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, São Paulo, Brazil., Carvalho EHT; Rede SARAH de Hospitais de Reabilitação, Belo Horizonte, Brazil., Scola RH; Departamento de Medicina Interna, Divisão de Neurologia, Serviço de Doenças Neuromusculares, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil., Carvalho AAS; Centro Universitário Saúde ABC, Santo André, Brazil., Saute JAM; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 644-649. Date of Electronic Publication: 2024 Jul 17.
DOI: 10.1111/cge.14589
Abstrakt: Limb-girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra-rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with LGMD2G/R7 were reviewed from July 2017 to August 2023. Additionally, a systematic literature review was conducted to identify case reports and series of the disease worldwide. Forty-one LGMD2G/R7 cases were described in the Brazilian cohort, being all subjects homozygous for the c.157C>T/(p.Gln53*) variant in TCAP. Survival curves showed that the median disease duration before individuals required walking aids was 21 years. Notably, women exhibited a slower disease progression, requiring walking aids 13 years later than men. LGMD2G/R7 was frequently reported not only in Brazil but also in China and Bulgaria, with 119 cases identified globally, with possible founder effects in the Brazilian, Eastern European, and Asian populations. These findings are pivotal in raising awareness of LGMD2G/R7, understanding its progression, and identifying potential modifiers. This can significantly contribute to the development of future natural history studies and clinical trials for this disease.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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