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.3863delC（p.T1288fs）及c.5082delT（p.S1694fs），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.3863delC?(p.T1288fs)?and? c.5082delT?(p.S1694fs)?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.