Genetic analysis of 21 cases of methylmalonic acidemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 362-365, 2022.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-928419
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families.@*METHODS@#Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease.@*RESULTS@#In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC (10%) of MMUT gene, and c.609G>A (45%), c.80A>G (10%) , c.567dupT (10%) of MMACHC gene. Among these, c.2000A>G of MMUT, c.298G>T of MMACHC and c.734-7A>G of MMAA gene were unreported previously.@*CONCLUSION@#Genetic testing for MMA patients can clarify the cause of the disease and provide a basis for the clinical diagnosis. Discovery of novel variants has enriched the mutational spectrum of MMA.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oxirredutases
/
Testes Genéticos
/
Sequenciamento de Nucleotídeos em Larga Escala
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Erros Inatos do Metabolismo dos Aminoácidos
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Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo