Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia
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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-07-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.940618/full |
| _version_ | 1828369682857459712 |
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| author | Li Wu Yajie Zhang Juan Zi Yinyan Yan Lihua Yu Danna Lin Lulu Huang Xiaorong Lai Xu Liao Lihua Yang |
| author_facet | Li Wu Yajie Zhang Juan Zi Yinyan Yan Lihua Yu Danna Lin Lulu Huang Xiaorong Lai Xu Liao Lihua Yang |
| author_sort | Li Wu |
| collection | DOAJ |
| description | 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 KDSR that caused progressive keratodermia and thrombocytopenia in a 2-year-old male patient. |
| first_indexed | 2024-04-14T06:27:01Z |
| format | Article |
| id | doaj.art-53618fb12c7e48d6852a8573347722a0 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-14T06:27:01Z |
| publishDate | 2022-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-53618fb12c7e48d6852a8573347722a02022-12-22T02:07:45ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-07-011010.3389/fped.2022.940618940618Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopeniaLi WuYajie ZhangJuan ZiYinyan YanLihua YuDanna LinLulu HuangXiaorong LaiXu LiaoLihua YangKDSR (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 KDSR that caused progressive keratodermia and thrombocytopenia in a 2-year-old male patient.https://www.frontiersin.org/articles/10.3389/fped.2022.940618/fullKDSRkeratodermiathrombocytopeniachildrencase report |
| spellingShingle | Li Wu Yajie Zhang Juan Zi Yinyan Yan Lihua Yu Danna Lin Lulu Huang Xiaorong Lai Xu Liao Lihua Yang Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia Frontiers in Pediatrics KDSR keratodermia thrombocytopenia children case report |
| title | Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia |
| title_full | Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia |
| title_fullStr | Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia |
| title_full_unstemmed | Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia |
| title_short | Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia |
| title_sort | case report compound heterozygous mutations in the kdsr gene cause progressive keratodermia and thrombocytopenia |
| topic | KDSR keratodermia thrombocytopenia children case report |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.940618/full |
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