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.
Article
de Zh
| WPRIM
| ID: wpr-345387
Bibliothèque responsable:
WPRO
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>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Conformation des protéines
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Analyse de mutations d'ADN
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Séquence nucléotidique
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Modèles moléculaires
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Chimie
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Séquence d'acides aminés
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Dépistage néonatal
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Similitude de séquences d'acides aminés
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Carbon-carbon ligases
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Diagnostic
Type d'étude:
Diagnostic_studies
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Prognostic_studies
Limites du sujet:
Humans
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Male
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Newborn
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2016
Type:
Article