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病例报告：该基因中的复合杂合突变导致进行性角化病和血小板减少症。

Case report: Compound heterozygous mutations in the gene cause progressive keratodermia and thrombocytopenia.

作者信息

Wu Li, Zhang Yajie, Zi Juan, Yan Yinyan, Yu Lihua, Lin Danna, Huang Lulu, Lai Xiaorong, Liao Xu, Yang Lihua

机构信息

Department of Pediatric Hematology, Zhujiang Hospital, Southern Medical University, Guangzhou, China.

出版信息

Front Pediatr. 2022 Jul 26;10:940618. doi: 10.3389/fped.2022.940618. eCollection 2022.

DOI:10.3389/fped.2022.940618
PMID:35958175
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9360485/
Abstract

KDSR (3-ketodihydrosphingosine reductase) is a short-chain dehydrogenase located in the endoplasmic reticulum. Mutations in KDSR cause defects in ceramides, which play a key role in the biological processes of the skin and other tissues. Herein, we report a case of compound heterozygous mutations in that caused progressive keratodermia and thrombocytopenia in a 2-year-old male patient.

摘要

KDSR（3-酮二氢鞘氨醇还原酶）是一种位于内质网的短链脱氢酶。KDSR基因突变会导致神经酰胺缺陷，而神经酰胺在皮肤和其他组织的生物学过程中起关键作用。在此，我们报告一例2岁男性患者发生复合杂合突变，该突变导致进行性角化病和血小板减少症。

相似文献

1
Case report: Compound heterozygous mutations in the gene cause progressive keratodermia and thrombocytopenia.病例报告：该基因中的复合杂合突变导致进行性角化病和血小板减少症。
Front Pediatr. 2022 Jul 26;10:940618. doi: 10.3389/fped.2022.940618. eCollection 2022.
2
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.基于患者双等位基因突变的掌跖角化病中酮型神经酰胺的形成。
Hum Mol Genet. 2022 Mar 31;31(7):1105-1114. doi: 10.1093/hmg/ddab309.
3
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.KDSR双等位基因突变破坏神经酰胺合成并导致一系列与血小板减少相关的角化障碍。
J Invest Dermatol. 2017 Nov;137(11):2344-2353. doi: 10.1016/j.jid.2017.06.028. Epub 2017 Jul 31.
4
3-ketodihydrosphingosine reductase mutation induces steatosis and hepatic injury in zebrafish.3-酮二氢神经鞘氨醇还原酶突变导致斑马鱼脂肪变性和肝损伤。
Sci Rep. 2019 Feb 4;9(1):1138. doi: 10.1038/s41598-018-37946-0.
5
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.由于缺乏功能性 KDSR，鞘脂代谢失调会损害血小板前体细胞的形成，导致血小板减少症。
Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22.
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Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.KDSR基因的突变导致隐性进行性对称性红斑角化病。
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Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome.患有KDSR突变的两兄弟出现可变的皮肤表现，表现为围翅综合征。
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Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation.进行性对称性红斑角化病表现为丑角样鱼鳞病，继发于纯合子3-酮二氢鞘氨醇还原酶突变导致的严重血小板减少症。
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引用本文的文献

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Don't Be Surprised When These Surprise You: Some Infrequently Studied Sphingoid Bases, Metabolites, and Factors That Should Be Kept in Mind During Sphingolipidomic Studies.当这些情况令您惊讶时请别诧异：一些研究较少的鞘氨醇碱、代谢物以及在鞘脂组学研究中应牢记的因素。
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本文引用的文献

1
Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.基于患者双等位基因突变的掌跖角化病中酮型神经酰胺的形成。
Hum Mol Genet. 2022 Mar 31;31(7):1105-1114. doi: 10.1093/hmg/ddab309.
2
Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation.进行性对称性红斑角化病表现为丑角样鱼鳞病，继发于纯合子3-酮二氢鞘氨醇还原酶突变导致的严重血小板减少症。
JAAD Case Rep. 2021 Jun 12;14:55-58. doi: 10.1016/j.jdcr.2021.06.006. eCollection 2021 Aug.
3
A Homozygotic Mutation in may Cause Keratinization Disorders and Thrombocytopenia: A Case Report.
一种可能导致角化障碍和血小板减少的 基因突变：病例报告。
Chin Med Sci J. 2020 Sep 30;35(3):278-282. doi: 10.24920/003656.
4
Author Correction: 3-ketodihydrosphingosine reductase mutation induces steatosis and hepatic injury in zebrafish.作者更正：3-酮二氢鞘氨醇还原酶突变诱导斑马鱼脂肪变性和肝损伤。
Sci Rep. 2020 Jul 15;10(1):11971. doi: 10.1038/s41598-020-67912-8.
5
Palmoplantar Keratoderma with Leukokeratosis Anogenitalis Caused by KDSR Mutations.由KDSR突变引起的掌跖角化病伴肛门生殖器白色角化病
J Invest Dermatol. 2020 Aug;140(8):1662-1665.e1. doi: 10.1016/j.jid.2019.11.029. Epub 2020 Jan 25.
6
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.由于缺乏功能性 KDSR，鞘脂代谢失调会损害血小板前体细胞的形成，导致血小板减少症。
Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22.
7
Mechanisms of Ceramide-Dependent Cancer Cell Death.神经酰胺依赖的癌细胞死亡机制。
Adv Cancer Res. 2018;140:1-25. doi: 10.1016/bs.acr.2018.04.007.
8
The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.围口周及趋褶性红皮病综合征（PERIOPTER综合征）：一种新的角化孟德尔遗传病。
J Eur Acad Dermatol Venereol. 2019 Jan;33(1):e1-e3. doi: 10.1111/jdv.15089. Epub 2018 Jun 13.
9
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.KDSR双等位基因突变破坏神经酰胺合成并导致一系列与血小板减少相关的角化障碍。
J Invest Dermatol. 2017 Nov;137(11):2344-2353. doi: 10.1016/j.jid.2017.06.028. Epub 2017 Jul 31.
10
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.KDSR基因的突变导致隐性进行性对称性红斑角化病。
Am J Hum Genet. 2017 Jun 1;100(6):978-984. doi: 10.1016/j.ajhg.2017.05.003.