Clinical and molecular findings in a cohort of ANO5-related myopathy

Objective:ANO5-related myopathy is an important cause of limb-girdle muscu-lar dystrophy (LGMD) and hyperCKemia. The main descriptions have emergedfrom European cohorts, and the burden of the disease worldwide is unclear. Weprovide a detailed characterization of a large Brazilian cohort fANO5patient...

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Principais autores: Dourado Junior, Mário Emílio Teixeira, Silva, André M. S., Coimbra-Neto, Antônio R.; et al.
Outros Autores: https://orcid.org/0000-0002-9462-2294
Formato: article
Idioma:English
Publicado em: Wiley
Assuntos:
myopathy
cohort of ANO5-related
miopatia relacionada ao ANO5
Endereço do item:https://repositorio.ufrn.br/handle/123456789/54227
https://doi.org/10.1002/acn3.50801
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spelling ri-123456789-542272023-07-27T18:25:24Z Clinical and molecular findings in a cohort of ANO5-related myopathy Dourado Junior, Mário Emílio Teixeira Silva, André M. S. Coimbra-Neto, Antônio R.; et al. https://orcid.org/0000-0002-9462-2294 myopathy cohort of ANO5-related miopatia relacionada ao ANO5 Objective:ANO5-related myopathy is an important cause of limb-girdle muscu-lar dystrophy (LGMD) and hyperCKemia. The main descriptions have emergedfrom European cohorts, and the burden of the disease worldwide is unclear. Weprovide a detailed characterization of a large Brazilian cohort fANO5patients.Methods: A national cross-sectional study was conducted to describe clinical,histopathological, radiological, and molecular features of patients carrying reces-sive variants inANO5. Correlation of clinical and genetic characteristics with dif-ferent phenotypes was studied.Results: Thirty-seven patients from 34 nonrelatedfamilies with recessive mutations ofANO5were identified. The most commonphenotype was LGMD, observed in 25 (67.5%) patients, followed by pseu-dometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCK-emia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patientspresented axial involvement, including one patient with isolated axial weakness.The most affected muscles according to MRI were the semimembranosus and gas-trocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants inANO5were identified, and the c.191dupAwas present in 19 (56%) families. Sex, years of disease, and the presence of loss-of-function variants were not associated with specific phenotypes.Interpretation:We present the largest series of anoctaminopathy outside Europe. The most com-mon European founder mutation c.191dupA was very frequent in our population.Gender, disease duration, and genotype did not determine the phenotype. 2023-07-27T18:17:20Z 2023-07-27T18:17:20Z 2019 article DOURADO JUNIOR, Mário Emílio Teixeira, et al. Clinical and molecular findings in a cohort of ANO5 ‐related myopathy. Annals Of Clinical And Translational Neurology, [S.L.], v. 6, n. 7, p. 1225-1238, 11 jun. 2019. Wiley. http://dx.doi.org/10.1002/acn3.50801. Disponível em: https://onlinelibrary.wiley.com/doi/10.1002/acn3.50801. Acesso em: 18 jul. 2023. https://repositorio.ufrn.br/handle/123456789/54227 https://doi.org/10.1002/acn3.50801 en https://creativecommons.org/licenses/by-nc-nd/4.0/ application/pdf Wiley
institution Repositório Institucional
collection RI - UFRN
language English
topic myopathy
cohort of ANO5-related
miopatia relacionada ao ANO5
spellingShingle myopathy
cohort of ANO5-related
miopatia relacionada ao ANO5
Dourado Junior, Mário Emílio Teixeira
Silva, André M. S.
Coimbra-Neto, Antônio R.; et al.
Clinical and molecular findings in a cohort of ANO5-related myopathy
description Objective:ANO5-related myopathy is an important cause of limb-girdle muscu-lar dystrophy (LGMD) and hyperCKemia. The main descriptions have emergedfrom European cohorts, and the burden of the disease worldwide is unclear. Weprovide a detailed characterization of a large Brazilian cohort fANO5patients.Methods: A national cross-sectional study was conducted to describe clinical,histopathological, radiological, and molecular features of patients carrying reces-sive variants inANO5. Correlation of clinical and genetic characteristics with dif-ferent phenotypes was studied.Results: Thirty-seven patients from 34 nonrelatedfamilies with recessive mutations ofANO5were identified. The most commonphenotype was LGMD, observed in 25 (67.5%) patients, followed by pseu-dometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCK-emia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patientspresented axial involvement, including one patient with isolated axial weakness.The most affected muscles according to MRI were the semimembranosus and gas-trocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants inANO5were identified, and the c.191dupAwas present in 19 (56%) families. Sex, years of disease, and the presence of loss-of-function variants were not associated with specific phenotypes.Interpretation:We present the largest series of anoctaminopathy outside Europe. The most com-mon European founder mutation c.191dupA was very frequent in our population.Gender, disease duration, and genotype did not determine the phenotype.
author2 https://orcid.org/0000-0002-9462-2294
author_facet https://orcid.org/0000-0002-9462-2294
Dourado Junior, Mário Emílio Teixeira
Silva, André M. S.
Coimbra-Neto, Antônio R.; et al.
format article
author Dourado Junior, Mário Emílio Teixeira
Silva, André M. S.
Coimbra-Neto, Antônio R.; et al.
author_sort Dourado Junior, Mário Emílio Teixeira
title Clinical and molecular findings in a cohort of ANO5-related myopathy
title_short Clinical and molecular findings in a cohort of ANO5-related myopathy
title_full Clinical and molecular findings in a cohort of ANO5-related myopathy
title_fullStr Clinical and molecular findings in a cohort of ANO5-related myopathy
title_full_unstemmed Clinical and molecular findings in a cohort of ANO5-related myopathy
title_sort clinical and molecular findings in a cohort of ano5-related myopathy
publisher Wiley
publishDate 2023
url https://repositorio.ufrn.br/handle/123456789/54227
https://doi.org/10.1002/acn3.50801
work_keys_str_mv AT douradojuniormarioemilioteixeira clinicalandmolecularfindingsinacohortofano5relatedmyopathy
AT silvaandrems clinicalandmolecularfindingsinacohortofano5relatedmyopathy
AT coimbranetoantonioretal clinicalandmolecularfindingsinacohortofano5relatedmyopathy
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