摘要
目的探讨Mowat-Wilson综合征(MWS)患儿的临床表型及遗传学特点。方法回顾分析2例MWS患儿的临床资料。结果男女患儿各1例,女性患儿3岁、男性患儿1岁4月龄,均以全面发育迟缓就诊。患儿面容异常,前额突出,眼距宽;语言、运动发育落后;均存在肌张力低下、心脏畸形以及泌尿生殖系统畸形。头颅磁共振成像示胼胝体发育不良。女性患儿脑电图异常,但未出现癫痫。女性患儿染色体芯片检测示染色体2q22.3区域存在缺失,大小为1.95 Mb,该区域包括ZEB2整个基因;定量PCR证实患儿该区域为新发变异。男性患儿高通量测序及Sanger测序验证发现ZEB2基因存在IVS1-2A>G剪接位点杂合突变。结论MWS的主要临床表现为面容异常、语言运动发育落后、多发畸形、胼胝体发育不良等,分子生物学检测有助于临床确诊。
Objective To investigate the clinical and genetic features of two patients diagnosed with Mowat-Wilson syndrome(MWS).Methods Clinical data of two patients with Mowat-Wilson syndrome were collected,and gene mutations and microdeletion/microduplication were analyzed by next generation sequencing(NGS)and chromosomal microarray analysis.Results Two patients(a boy and a girl)aged 3 years old and 1 year and 4 months old with global developmental delay were recruited in this study.The patients presented with mental retardation,motor and speech delay,hypotonia,cardiac malformation and genitourinary malformation,and both patients had corpus callosum dysplasia.Although electroencephalogram suggests slow spikes and slow waves,epileptic symptoms are not present in the patient 1.Genomic CNVs tests found a 1.95Mb loss in 2q22.3 region,that include ZEB2 gene region,and the deletion was found to be de novo using real-time PCR.A de novo heterogeneous mutation in ZEB2 gene(IVS1-2A>G)was found in patient 2 using NGS.Conclusion Patient diagnosed with Mowat-Wilson syndrome often has abnormal facial features,language and motor development delay,multiple malformations,callosal dysplasia,and so on.Gene detection is helpful for diagnosis.
作者
江士远
石玉梅
JIANG Shiyuan;SHIYumei(Shanxian Haijiya Hospital,Heze 274300,Shandong,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2020年第5期343-346,共4页
Journal of Clinical Pediatrics
