[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(5): 657-61, 2016 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-27577216
ABSTRACT
OBJECTIVE:
To explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.METHODS:
PCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder and Swiss-PdbViewer4.1.0 were applied to analyze the possible mechanism of the variant.RESULTS:
For the proband, a compound heterozygous mutation was discovered in the MCCC1 gene, namely c.539G>T (p.G180V) and c.704_711del (p.A235Vfs*4), which were inherited from his father and mother, respectively. The two mutations have disrupted the protein conformation, which in turn may impact the function of MCC protein.CONCLUSION:
The compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Carbono-Carbono Ligases
/
Distúrbios Congênitos do Ciclo da Ureia
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Male
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Newborn
Idioma:
Zh
Ano de publicação:
2016
Tipo de documento:
Article