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科恩综合征中的VPS13B突变表现为瘀点：一种不寻常的表现。

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.

作者信息

Razavi Alireza, Jafarpour Hamed, Khosravi Mohammad Reza, Abbasi Ghazal, Dabbaghzadeh Abbas

机构信息

Student Research Committee School of Medicine Mazandaran University of Medical Sciences Sari Iran.

Department of Pediatrics School of Medicine Bu Ali Sina Hospital Mazandaran University of Medical Sciences Sari Iran.

出版信息

Clin Case Rep. 2021 Jul 23;9(7):e04492. doi: 10.1002/ccr3.4492. eCollection 2021 Jul.

DOI:10.1002/ccr3.4492
PMID:34322253
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8301562/
Abstract

Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS-induced neutropenia and petechiae in patients with CS.

摘要

科恩综合征（CS）是一种罕见的常染色体隐性疾病。CS包括一系列临床症状，如视网膜营养不良和近视。新发现的VPS13B突变可导致CS患者出现CS诱发的中性粒细胞减少和瘀点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7411/8301562/112da2d815b7/CCR3-9-e04492-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7411/8301562/333aa6699657/CCR3-9-e04492-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7411/8301562/5bdba3505e05/CCR3-9-e04492-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7411/8301562/112da2d815b7/CCR3-9-e04492-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7411/8301562/333aa6699657/CCR3-9-e04492-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7411/8301562/5bdba3505e05/CCR3-9-e04492-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7411/8301562/112da2d815b7/CCR3-9-e04492-g001.jpg

相似文献

1
A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.科恩综合征中的VPS13B突变表现为瘀点：一种不寻常的表现。
Clin Case Rep. 2021 Jul 23;9(7):e04492. doi: 10.1002/ccr3.4492. eCollection 2021 Jul.
2
A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.一种新型 Cohen 综合征 VPS13B 突变：病例报告及文献复习。
BMC Med Genet. 2020 Jun 30;21(1):140. doi: 10.1186/s12881-020-01075-1.
3
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.病例报告：一个 Cohen 综合征伴指蹼过长的中国家庭中发现的 VPS13B 的两个新突变。
BMC Med Genet. 2019 Nov 21;20(1):187. doi: 10.1186/s12881-019-0920-x.
4
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.突尼斯人群中由VPS13B突变引起的科恩综合征的首例病例报告。
BMC Med Genet. 2017 Nov 17;18(1):134. doi: 10.1186/s12881-017-0493-5.
5
Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations.Cohen 综合征患者来源的诱导多能干细胞神经元模型中 VPS13B 错义突变导致自噬途径上调。
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6
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.一种与之前未报道的科恩综合征特征相关的VPS13B纯合无义突变。
Am J Med Genet A. 2020 Mar;182(3):570-575. doi: 10.1002/ajmg.a.61435. Epub 2019 Dec 11.
7
Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series.科恩综合征中VPS13B基因新型变异缺失：病例系列
Transl Neurosci. 2023 Sep 1;14(1):20220304. doi: 10.1515/tnsci-2022-0304. eCollection 2023 Jan 1.
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Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.Serpin B1 缺陷和 Cohen 综合征中性粒细胞减少症中性粒细胞凋亡增加。
J Mol Med (Berl). 2019 May;97(5):633-645. doi: 10.1007/s00109-019-01754-4. Epub 2019 Mar 7.
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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.VPS13B（COH1）基因缺失是科恩综合征的病因。
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Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.纯合性定位和全外显子组测序为一个沙特家庭中的科恩综合征提供了准确诊断。
Brain Dev. 2020 Sep;42(8):587-593. doi: 10.1016/j.braindev.2020.04.010. Epub 2020 May 10.

本文引用的文献

1
A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.一种新型 Cohen 综合征 VPS13B 突变：病例报告及文献复习。
BMC Med Genet. 2020 Jun 30;21(1):140. doi: 10.1186/s12881-020-01075-1.
2
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.病例报告：一个 Cohen 综合征伴指蹼过长的中国家庭中发现的 VPS13B 的两个新突变。
BMC Med Genet. 2019 Nov 21;20(1):187. doi: 10.1186/s12881-019-0920-x.
3
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
Serpin B1 缺陷和 Cohen 综合征中性粒细胞减少症中性粒细胞凋亡增加。
J Mol Med (Berl). 2019 May;97(5):633-645. doi: 10.1007/s00109-019-01754-4. Epub 2019 Mar 7.
4
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.突尼斯人群中由VPS13B突变引起的科恩综合征的首例病例报告。
BMC Med Genet. 2017 Nov 17;18(1):134. doi: 10.1186/s12881-017-0493-5.
5
Approach to the patient with neutropenia in childhood.儿童中性粒细胞减少症患者的诊疗方法。
Turk Pediatri Ars. 2015 Sep 1;50(3):136-44. doi: 10.5152/TurkPediatriArs.2015.2295. eCollection 2015 Sep.
6
The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study.不同病因中性粒细胞减少症患者抗菌前体肽hCAP-18的血浆水平：一项前瞻性研究。
Sci Rep. 2015 Jun 29;5:11685. doi: 10.1038/srep11685.
7
Cotrimoxazole prophylaxis and risk of severe anemia or severe neutropenia in HAART-exposed, HIV-uninfected infants.复方新诺明预防治疗与抗反转录病毒治疗暴露、HIV 阴性婴儿重度贫血或重度中性粒细胞减少症的风险。
PLoS One. 2013 Sep 23;8(9):e74171. doi: 10.1371/journal.pone.0074171. eCollection 2013.
8
Ocular findings in Brazilian identical twins with Cohen syndrome: case report.
Arq Bras Oftalmol. 2009 Nov-Dec;72(6):815-8. doi: 10.1590/s0004-27492009000600014.
9
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.科恩综合征由一种新基因COH1的突变引起，该基因编码一种跨膜蛋白，推测其在囊泡介导的分选和细胞内蛋白质运输中发挥作用。
Am J Hum Genet. 2003 Jun;72(6):1359-69. doi: 10.1086/375454. Epub 2003 May 2.
10
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.科恩综合征的诊断标准、临床特征及自然病史。
J Med Genet. 2003 Apr;40(4):233-41. doi: 10.1136/jmg.40.4.233.