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
in Chinese
| 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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Protein Conformation
/
DNA Mutational Analysis
/
Base Sequence
/
Models, Molecular
/
Chemistry
/
Amino Acid Sequence
/
Neonatal Screening
/
Sequence Homology, Amino Acid
/
Carbon-Carbon Ligases
/
Diagnosis
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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