VPS13B基因复合杂合变异致Cohen综合征1例报告并文献复习

doi:10.3969/j.issn.1000-3606.2020.10.014

临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (10): 777-.doi: 10.3969/j.issn.1000-3606.2020.10.014

VPS13B基因复合杂合变异致Cohen综合征1例报告并文献复习

曹玉红 1, 张光运 1, 曹开方 2, 曹艳华 3

1. 空军特色医学中心（北京 100142）；2. 空军军医大学口腔医院（陕西西安 710032）； 3. 解放军第九六○医院（山东济南 250031）

出版日期:2020-10-15 发布日期:2020-10-10
通讯作者: 张光运电子信箱：zhgyun@fmmu.edu.cn

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

CAO Yuhong1, ZHANG Guangyun1, CAO Kaifang2, CAO Yanhua3

1. Characteristic Medical Center, Air Force, Beijing 100142, China;2.Stomatology Hospital, Air Force Military Medical University, Xi’an 710032, Shaanxi, China; 3. No. 960 Hospital of PLA, Jinan 250031, Shandong, China

Online:2020-10-15 Published:2020-10-10

摘要/Abstract

摘要： 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。

关键词: 　Cohen综合征； VPS13B基因；变异

Abstract: 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.

Key words: 　Cohen syndrome; VPS13B?gene;? variation

曹玉红，张光运，曹开方，等. VPS13B基因复合杂合变异致Cohen综合征1例报告并文献复习[J]. 临床儿科杂志, 2020, 38(10): 777-.

CAO Yuhong, ZHANG Guangyun, CAO Kaifang, et al. Cohen syndrome caused by compound heterozygous variation in VPS13B gene: a case report and literature review[J]. Journal of Clinical Pediatrics, 2020, 38(10): 777-.

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

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