A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency.
- VernacularTitle:一种新的复合杂合突变导致3-甲基巴豆酰辅酶A羧化酶缺乏症
- Author:
Bobo XIE
1
;
Jingsi LUO
;
Yaqin LEI
;
Rongyu CHEN
;
Jin WANG
;
Shujie ZHANG
;
Xin FAN
;
Wang LI
;
Shaoke CHEN
Author Information
- Publication Type:Case Reports
- MeSH: Amino Acid Sequence; Base Sequence; Carbon-Carbon Ligases; chemistry; deficiency; genetics; DNA Mutational Analysis; Heterozygote; Humans; Infant, Newborn; Male; Models, Molecular; Mutation; Neonatal Screening; methods; Protein Conformation; Sequence Homology, Amino Acid; Urea Cycle Disorders, Inborn; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2016;33(5):657-661
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.
METHODSPCR 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.
RESULTSFor 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.
CONCLUSIONThe compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.
