A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 657-661, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-345387
ABSTRACT
<p><b>OBJECTIVE</b>To explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Conformação Proteica
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Modelos Moleculares
/
Química
/
Sequência de Aminoácidos
/
Triagem Neonatal
/
Homologia de Sequência de Aminoácidos
/
Carbono-Carbono Ligases
/
Diagnóstico
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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