Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia.
- Author:
Yun SUN
1
;
Dingyuan MA
;
Yanyun WANG
;
Bin YANG
;
Tao JIANG
Author Information
- Publication Type:Case Reports
- MeSH: Amino Acid Metabolism, Inborn Errors; genetics; pathology; Base Sequence; DNA Mutational Analysis; methods; Family Health; Fathers; Female; Genetic Predisposition to Disease; genetics; Glycine N-Methyltransferase; deficiency; genetics; Heterozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; genetics; pathology; Male; Methionine Adenosyltransferase; genetics; Mothers; Mutation
- From: Chinese Journal of Medical Genetics 2017;34(1):98-101
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening.
METHODSClinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion AmpliseqInherited Disease Panel. Detected mutations were verified by Sanger sequencing.
RESULTSThe child showed no clinical features except evaluated methionine. A novel compound mutation of the MAT1A gene, i.e., c.345delA and c.529C>T, was identified in the child. His father and mother were found to be heterozygous for the c.345delA mutation and c.529C>T mutation, respectively.
CONCLUSIONThe compound mutation c.345delA and c.529C>T of the MAT1A gene probably underlie the disease in the child. The semi-conductor sequencing has provided an important means for the diagnosis of hereditary diseases.
