摘要
目的对1例二氢硫辛酰胺脱氢酶(dihydrolipoamide dehydrogenase,DLD)缺乏症患儿DLD基因进行变异分析,明确其致病原因。方法应用全外显子测序及Sanger测序法对患儿DLD基因进行变异检测。结果测序结果显示患儿DLD基因存在c.704_705delTT(p.Leu235Argfs*8)和c.1058T>C(p.Ile353Thr)复合杂合变异,其表型正常的父母分别携带c.704_705delTT(p.Leu235Argfs*8)杂合变异和c.1058T>C(p.Ile353Thr)杂合变异,患儿弟弟未携带上述2个变异。其中c.1058T>C(p.Ile353Thr)变异为已报道的致病变异;c.704_705delTT(p.Leu235Argfs*8)变异为未报道过的新变异,参照美国医学遗传学与基因组学学会评级指南提示其为致病性变异(PVS1+PM2+PP4)。结论DLD基因c.704-705delTT和c.1058T>C变异为该患儿的致病原因,基因检测结果可为临床诊断、家系遗传咨询和产前诊断提供依据。
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.
作者
毋盛楠
陈永兴
陈琼
沈凌花
卫海燕
Wu Shengnan;Chen Yongxing;Chen Qiong;Shen Linghua;Wei Haiyan(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)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第12期1356-1359,共4页
Chinese Journal of Medical Genetics
基金
国家重点研发计划(2017YFC1001700)。
