[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(2): 135-9, 2016 Apr.
Article
em Zh
| MEDLINE
| ID: mdl-27060300
ABSTRACT
OBJECTIVE:
To explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).METHODS:
Potential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software.RESULTS:
Two novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that both mutations were damaging. The affected codons P194 and N407, both located in the (beta, alpha) 8 barrel domain and to which the substrate methylmalonyl-CoA is bound, are highly conserved across various species. Both mutations can disrupt the space conformation of its protein product, affecting the function of the MCM protein.CONCLUSION:
The novel mutations of MUT gene probably underlie the isolated MMA in this family.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Mutação Puntual
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Metilmalonil-CoA Mutase
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Animals
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
China