[Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1356-1359. doi: 10.3760/cma.j.cn511374-20191223-00656.
[Article in Chinese]

Abstract

Objective: To analyze the clinical and genetic characteristics of a patient with dihydrolipoamide dehydrogenase deficiency.

Methods: Potential variants of the DLD gene were detected by whole exome sequencing and verified by Sanger sequencing.

Results: Compound heterozygous variants, c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr), were detected in the DLD gene. The c.1058T>C (p.Ile353Thr) variant was derived from his mother and known to be pathogenic. The c.704_705delTT (p.Leu235Argfs*8) variant was derived from his father and was unreported previously.

Conclusion: The compound heterozygous variants of c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr) of the DLD gene probably underlay the disease in this patient. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic* / genetics
  • Dihydrolipoamide Dehydrogenase* / genetics
  • Exome Sequencing
  • Female
  • Genetic Testing
  • Genetic Variation*
  • Humans
  • Male
  • Maple Syrup Urine Disease* / genetics
  • Pregnancy

Substances

  • Dihydrolipoamide Dehydrogenase

Supplementary concepts

  • Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency