摘要
目的对1例特殊面容、精神运动发育迟缓、癫痫及胼胝体发育不全的患者进行全外显子组测序分析,探讨其可能的分子遗传学病因。方法抽提先证者及其家系成员外周血基因组DNA。应用二代测序技术对全外显子组基因序列进行突变检测,并对先证者及其父母的变异位点行Sanger测序验证。结果先证者ZEB2基因第8外显子检测到c.2824G>T(p.G942X)杂合变异,导致ZEB2基因第942位编码甘氨酸的密码子(GGA)突变为终止密码子(UGA),产生截短蛋白,影响蛋白质功能的正常发挥。患儿父母未检测到该变异。结论ZEB2基因c.2824G>T(p.G942X)杂合变异可能是先证者的遗传学病因,Mowat-Wilson综合征在国内尚未见报道。
Objective To explore the genetic basis of a proband with distinctive facial features,global developmental delay,seizures and hypoplasia of corpus callosum through next generation sequencing(NGS).Methods Genomic DNA was extracted from peripheral blood samples of the proband and his family members.Whole exome and flanking sequences were screened by NGS.Suspected variants were verified by Sanger sequencing.Results The proband was found to carry a heterozygous c.2824G>T(p.G942X)variant of the ZEB2gene,which was verified by Sanger sequencing to be a de novo variant.Conclusion The heterozygous c.2824G>T(p.G942X)variant of the ZEB2gene probably underlies the Mowat-Wilson syndrome in the proband.
作者
马健
刘勇
张开慧
律玉强
高敏
王东
盖中涛
刘毅
Ma Jian;Liu Yong;Zhang Kaihui;Lyu Yuqiang;Gao Min;Wang Dong;Gai Zhongtao;Liu Yi(Jinan Pediatric Research Institute,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China;Department of Neuroendocrinology,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第5期539-542,共4页
Chinese Journal of Medical Genetics