科恩综合征：文献综述
Cohen Syndrome: Review of the Literature.
作者信息
Rodrigues Jonathan M, Fernandes Hermina D, Caruthers Carrie, Braddock Stephen R, Knutsen Alan P
机构信息
Internal Medicine, University of North Dakota School of Medicine and Health Sciences, Bismarck, USA.
Allergy and Immunology, The Vancouver Clinic, Vancouver, USA.
出版信息
Cureus. 2018 Sep 18;10(9):e3330. doi: 10.7759/cureus.3330.
Abstract
Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental deficiency, and facial, oral, ocular and limb anomalies. Leukopenia, especially neutropenia, was later described as a feature of Cohen syndrome. Cohen syndrome is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2.
摘要
科恩综合征最初被描述为一种包括肥胖、肌张力减退、智力缺陷以及面部、口腔、眼部和肢体异常的综合征。白细胞减少症，尤其是中性粒细胞减少症，后来被描述为科恩综合征的一个特征。科恩综合征由位于8号染色体q22.2区域的液泡蛋白分选13同源物B（VPS13B，也称为COH1）基因的常染色体隐性（AR）突变引起。
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本文引用的文献
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Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.胰岛素反应失调解释了科恩综合征中异常脂肪储存和2型糖尿病风险增加的原因。
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2
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.三个巴基斯坦大型科恩综合征家族中的新型VPS13B突变提示一种具有自闭症样特征的俾路支变体。
BMC Med Genet. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0.
3
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.科恩综合征相关蛋白COH1在高尔基体复合体处与小GTP酶RAB6发生物理和功能相互作用，并指导神经突生长。
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4
Cohen syndrome is associated with major glycosylation defects.科恩综合征与主要的糖基化缺陷有关。
Hum Mol Genet. 2014 May 1;23(9):2391-9. doi: 10.1093/hmg/ddt630. Epub 2013 Dec 13.
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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.改变 Cohen 综合征的面型特征：为早期诊断提供线索。
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Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.科恩综合征相关蛋白 COH1 是一种新型的巨大高尔基体基质蛋白，对于高尔基体的完整性是必需的。
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Cerebellar hypoplasia and Cohen syndrome: a confirmed association.小脑发育不全与科恩综合征：一种已证实的关联。
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Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.在对 34 名疑似 Cohen 综合征患者进行基因分型的研究中，寻找 VPS13B 基因突变存在的最佳指标，并确认诊断标准。
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