Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 135-139, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247722
ABSTRACT
<p><b>OBJECTIVE</b>To explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The novel mutations of MUT gene probably underlie the isolated MMA in this family.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Dados de Sequência Molecular
/
Sequência de Bases
/
China
/
Alinhamento de Sequência
/
Sequência de Aminoácidos
/
Mutação Puntual
/
Mutação de Sentido Incorreto
/
Povo Asiático
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Animais
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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