[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):98-101. doi: 10.3760/cma.j.issn.1003-9406.2017.01.023.
[Article in Chinese]

Abstract

Objective: To detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening.

Methods: Clinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion AmpliseqTM Inherited Disease Panel. Detected mutations were verified by Sanger sequencing.

Results: The 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.

Conclusion: The 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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / pathology
  • Base Sequence
  • DNA Mutational Analysis / methods
  • Family Health
  • Fathers
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Glycine N-Methyltransferase / deficiency*
  • Glycine N-Methyltransferase / genetics
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / genetics*
  • Infant, Newborn, Diseases / pathology
  • Male
  • Methionine Adenosyltransferase / genetics*
  • Mothers
  • Mutation*

Substances

  • Glycine N-Methyltransferase
  • MAT1A protein, human
  • Methionine Adenosyltransferase

Supplementary concepts

  • Hypermethioninemia