山东医药2023，Vol.63Issue(36)：20-25,6.DOI:10.3969/j.issn.1002-266X.2023.36.005
儿童Mowat-Wilson综合征的临床特点及基因变异和遗传情况
Clinical characteristics,genetic variation,and inheritance of Mowat-Wilson syndrome in children
摘要
Abstract
Objective To summarize the clinical characteristics of Mowat-Wilson syndrome(MWS)in children,and to understand the genetic variation and inheritance of the disease.Methods The clinical data of 8 children with MWS admitted to Nanjing Children's Hospital Affiliated to Nanjing Medical University from January 2017 to December 2022 were analyzed retrospectively.Results Eight patients had developmental delay,unusual facies and congenital mal-formations(such as congenital heart disease,skeletal malformation,congenital megacolon,renal abnormalities,etc.).Patient 1 carried a de novo heterozygous frameshift variant of ZEB2 gene[c.2350_c.2351insT(p.S784F*11)],which was not found in his parents;patient 2 carried a de novo heterozygous nonsense variant in the ZEB2 gene[c.1150C＞T(p.Q384*,831)],which was not found in his parents;a same heterozygous nonsense variant of ZEB2 gene was detected in patients 3 and 6[c.2073G＞A(p.W691*,524)],while it was not found in their parents;patient 4 carried a de no-vo heterozygous missense variant in the ZEB2 gene[c.3179G＞A(p.C1060Y)],which was not found in his parents;pa-tient 5 carried a de novo heterozygous nonsense variant in the ZEB2 gene[c.904C＞T(p.R302*,913)],which was not found in his parents;patient 7 carried a de novo heterozygous nonsense variant in the ZEB2 gene[c.2467C＞T(p.Q823*,392)],which was not found in his parents;patient 8 had a heterozygous missense variation in the ZEB2 gene[c.1961A＞C(p.D654A)],and the source of the variation was not clear.Three variants had not been reported previous-ly(p.C1060Y,p.D654A,and p.Q823*,392).According to the ACMG guidelines,two missense mutations were evaluat-ed as likely pathogenic(p.C1060Y)variants with unknown significance(p.D654A),while the remaining six variants were rated as pathogenic variants.Conclusions MWS patients are characterized by mental retardation,special facies,epilepsy,short stature and various congenital malformations.The phenotype of chronic kidney disease is reported for the first time.The genetic characteristics are heterozygous variations on ZEB2 gene,most of the variants are neonatal variants,and the origin of a few variants is unclear.关键词
Mowat-Wilson综合征/智力发育迟缓/慢性肾脏病/ZEB2基因Key words
Mowat-Wilson syndrome/mental retardation/chronic kidney disease/ZEB2 gene分类
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季文雅,郑必霞,张爱华..儿童Mowat-Wilson综合征的临床特点及基因变异和遗传情况[J].山东医药,2023,63(36):20-25,6.基金项目
国家重点研发计划(2022YFC2705105). （2022YFC2705105）
