[Mutation analysis of GCDH gene in four patients with glutaric academia type I]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):187-91. doi: 10.3760/cma.j.issn.1003-9406.2015.02.008.
[Article in Chinese]

Abstract

Objective: To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene.

Methods: All of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.

Results: Mutations of the GCDH gene were identified in all of the patients. Three had homozygous mutations. A recurrent mutation, IVS10-2A>C, was found in the four unrelated families, while the mutation of c.245G>C (p.Arg82Pro) was novel.

Conclusion: IVS10-2A>C is likely a founder mutation for Chinese population in Wenzhou.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnostic imaging
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Sequence
  • Asian People / genetics*
  • Base Sequence
  • Brain Diseases, Metabolic / diagnostic imaging
  • Brain Diseases, Metabolic / enzymology*
  • Brain Diseases, Metabolic / genetics
  • DNA Mutational Analysis
  • Exons
  • Female
  • Glutaryl-CoA Dehydrogenase / chemistry
  • Glutaryl-CoA Dehydrogenase / deficiency*
  • Glutaryl-CoA Dehydrogenase / genetics*
  • Glutaryl-CoA Dehydrogenase / metabolism
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Radiography
  • Sequence Alignment

Substances

  • Glutaryl-CoA Dehydrogenase

Supplementary concepts

  • Glutaric Acidemia I