title: [A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].
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.
  
  
  CONCLUSIONS
  The compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.
authors: Department of Genetic Metabolism, Maternal and Children Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China. Email: chenshaoke123@163.com.
authors: Bobo
authors: B
authors: Xie
authors: Jingsi
authors: J
authors: Luo
authors: Yaqin
authors: Y
authors: Lei
authors: Rongyu
authors: R
authors: Chen
authors: Jin
authors: J
authors: Wang
authors: Shujie
authors: S
authors: Zhang
authors: Xin
authors: X
authors: Fan
authors: Wang
authors: W
authors: Li
authors: Shaoke
authors: S
authors: Chen
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D019735:Carbon-Carbon Ligases / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D011487:Protein Conformation; D017386:Sequence Homology, Amino Acid; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis / Q000235:genetics*
chemical_list: D019735:Carbon-Carbon Ligases; C000609234:MCCC1 protein, human