一例ZEB2基因无义变异所致Mowat-Wilson综合征患者的遗传学分析  

Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene

作　　者：佘明聪[1] 赵振华[1] 时盼来 郜珊珊 孔祥东[1] She Mingcong;Zhao Zhenhua;Shi Panlai;Gao Shanshan;Kong Xiangdong(Genetic and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,郑州450052

出　　处：《中华医学遗传学杂志》2022年第8期889-892,共4页Chinese Journal of Medical Genetics

基　　金：国家重大研发计划(2018YFC1002203)。

摘　　要：目的探讨1例特殊面容、癫痫、智力低下、长期便秘伴颈部和上肢色素减退的患儿的遗传学病因。方法对患儿进行全外显子组检测,对候选变异用Sanger测序进行家系验证。结果先证者携带ZEB2基因c.586G>T(p.Glu196*)杂合无义变异,既往未见报道。先证者父母未检测到相同变异。结论ZEB2基因c.586G>T(p.Glu196*)杂合无义变异可能是患儿发生Mowat-Wilson综合征的原因,颈部及上肢的色素减退考虑与该综合征相关,其母亲再次怀孕时需接受产前诊断。Objective To explore the genetic basis for a girl with distinctive facial features,epilepsy,intellectual disability,chronic constipation and hypopigmentation of neck and upper extremities.Methods Whole exome sequencing was carried out for the proband.Candidate variant was verified by Sanger sequencing.Results The proband was found to harbor a heterozygous nonsense c.586G>T(p.Glu196*)variant of the ZEB2 gene,which was unreported previously.The variant was not detected in either parent.Conclusion The ZEB2 gene c.586G>T(p.Glu196*)variant probably underlay the Mowat-Wilson syndrome in this patient.Hypopigmentation in the neck and upper extremities may be related to Mowat-Wilson syndrome.Prenatal diagnosis was recommended for subsequent pregnancies.

关 键 词：Mowat-Wilson综合征 ZEB2基因 无义变异 产前诊断 

分 类 号：R725.9[医药卫生—儿科]