[一例由DLD基因新变异导致的二氢硫辛酰胺脱氢酶缺乏症的临床与遗传学分析]
[Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene].
作者信息
Wu Shengnan, Chen Yongxing, Chen Qiong, Shen Linghua, Wei Haiyan
机构信息
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.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1356-1359. doi: 10.3760/cma.j.cn511374-20191223-00656.
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.Leu235Argfs8) 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.Leu235Argfs8) 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.
目的
分析1例二氢硫辛酰胺脱氢酶缺乏症患者的临床及基因特征。
方法
采用全外显子组测序检测DLD基因的潜在变异，并通过Sanger测序进行验证。
结果
在DLD基因中检测到复合杂合变异，即c.704_705delTT（p.Leu235Argfs8）和c.1058T>C（p.Ile353Thr）。c.1058T>C（p.Ile353Thr）变异来自其母亲，已知为致病性变异。c.704_705delTT（p.Leu235Argfs8）变异来自其父亲，此前未见报道。
结论
DLD基因的c.704_705delTT（p.Leu235Argfs*8）和c.1058T>C（p.Ile353Thr）复合杂合变异可能是该患者发病的原因。上述发现有助于该家庭的遗传咨询和产前诊断。
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