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.
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.
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。
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