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...

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Autores principales: Wu, Li, Zhang, Yajie, Zi, Juan, Yan, Yinyan, Yu, Lihua, Lin, Danna, Huang, Lulu, Lai, Xiaorong, Liao, Xu, Yang, Lihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360485/
https://www.ncbi.nlm.nih.gov/pubmed/35958175
http://dx.doi.org/10.3389/fped.2022.940618
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author Wu, Li
Zhang, Yajie
Zi, Juan
Yan, Yinyan
Yu, Lihua
Lin, Danna
Huang, Lulu
Lai, Xiaorong
Liao, Xu
Yang, Lihua
author_facet Wu, Li
Zhang, Yajie
Zi, Juan
Yan, Yinyan
Yu, Lihua
Lin, Danna
Huang, Lulu
Lai, Xiaorong
Liao, Xu
Yang, Lihua
author_sort Wu, Li
collection PubMed
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.
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spelling pubmed-93604852022-08-10 Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia Wu, Li Zhang, Yajie Zi, Juan Yan, Yinyan Yu, Lihua Lin, Danna Huang, Lulu Lai, Xiaorong Liao, Xu Yang, Lihua Front Pediatr Pediatrics 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. Frontiers Media S.A. 2022-07-26 /pmc/articles/PMC9360485/ /pubmed/35958175 http://dx.doi.org/10.3389/fped.2022.940618 Text en Copyright © 2022 Wu, Zhang, Zi, Yan, Yu, Lin, Huang, Lai, Liao and Yang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Wu, Li
Zhang, Yajie
Zi, Juan
Yan, Yinyan
Yu, Lihua
Lin, Danna
Huang, Lulu
Lai, Xiaorong
Liao, Xu
Yang, Lihua
Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia
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 Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360485/
https://www.ncbi.nlm.nih.gov/pubmed/35958175
http://dx.doi.org/10.3389/fped.2022.940618
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