VPS13B基因复合杂合变异致Cohen综合征1例报告并文献复习

Cohen syndrome caused by compound heterozygous variation in VPS13B gene:a case report and literature review

目的探讨Cohen综合征临床及基因变异特点。方法回顾分析1例Cohen综合征患儿的临床资料及分子遗传学检测结果,并复习相关文献。结果患儿,男,1岁3个月,因智力运动发育迟缓就诊。患儿毛发浓密,眼距宽,眼裂下斜,短人中,上唇短,多线及通贯掌纹,关节过伸,肌张力低。中性粒细胞减少。头颅磁共振成像示双侧脑室扩大,脑外间隙增宽。基因检测显示患儿VPS13B基因存在复合杂合变异c.3863 delC(p.T 1288 fs)及c.5082 delT(p.S 1694 fs),分别来自表型正常的父母。两个变异位点均未见报道,相关软件预测为致病变异。结论患儿确诊为Cohen综合征,此研究扩展了Cohen综合征患者VPS13B基因变异谱。

Objective To explore the clinical and genetic variation characteristics of Cohen syndrome.Methods The clinical data and molecular genetic test results of Cohen syndrome in a child were retrospectively analyzed,and the related literature was reviewed.Results A 1-year-and 3-month-old boy visited for psychomotor retardation.He presented with thick hair,hypertelorism,down-slanting palpebral fissures,short philtrum,a short upper lip,hyperlinear and single transverse palmar creases,joint hypermobility,hypotonia and neutropenia.Brain magnetic resonance imaging showed bilateral ventricles enlarged and extracerebral spaces widened.Gene detection showed compound heterozygous variants of c.3863 delC(p.T 1288 fs)and c.5082 delT(p.S 1694 fs)in VPS13B gene,which came from parents with normal phenotype.The variation was predicted to be pathogenic by related software,and they have not been reported.Conclusions The child was diagnosed with Cohen syndrome,and the VPS13B gene variant spectrum in Cohen syndrome patients was expanded.