Genetic analysis of a Chinese pedigree affected with Becker muscular dystrophy with myalgia as the main feature / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 383-386, 2022.
Article
em Zh
| WPRIM
| ID: wpr-928424
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a Chinese pedigree affected with Becker muscular dystrophy (BMD) with myalgia as the main feature.@*METHODS@#Clinical data of the patients and results of auxiliary examinations were retrospectively analyzed. Multiplex ligation-dependent probe amplification and high-throughput sequencing were used to detect potential variants. Sanger sequencing was used to verify the results.@*RESULTS@#The clinical manifestations of the proband included myalgia and elevated serum creatine kinase, which is similar to another patient from the pedigree. Genetic testing revealed that the two patients both harbored hemizygous deletions of exons 10 to 29 of the DMD gene, for which the mother was a carrier. The same deletion was not found in his father. Based on the guidelines from American College of Medical Genetics and Genomics, the deletion was predicted to be pathogenic (PVS1+PM2+PP1).@*CONCLUSION@#Myalgia with elevated serum CK may be atypical clinical manifestations of BMD and may be associated with variants in the rod domain of the DMD gene. The deletion of exons 10 to 29 of the DMD gene probably underlay the BMD in this pedigree.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Linhagem
/
China
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Testes Genéticos
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Estudos Retrospectivos
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Distrofina
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Distrofia Muscular de Duchenne
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Mialgia
Tipo de estudo:
Guideline
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Observational_studies
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Risk_factors_studies
Limite:
Female
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Humans
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Article