Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene.
10.3760/cma.j.cn511374-20191223-00656
- Author:
Shengnan WU
1
;
Yongxing CHEN
;
Qiong CHEN
;
Linghua SHEN
;
Haiyan WEI
Author Information
1. Department of Pediatric Endocrinology and Genetic Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450000, China. haiyanwei2009@163.com.
- Publication Type:Journal Article
- MeSH:
Acidosis, Lactic/genetics*;
Dihydrolipoamide Dehydrogenase/genetics*;
Female;
Genetic Testing;
Genetic Variation;
Humans;
Male;
Maple Syrup Urine Disease/genetics*;
Pregnancy;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2020;37(12):1356-1359
- CountryChina
- Language: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.
