A patient with familial Flegel disease caused by a novel splicing variant in <i>SPTLC1</i>-Reference-Cited by-同舟云学术

A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1

Published:2023-02-14 Issue:6 Volume:48 Page:693-695
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Xue Ruzeng¹,Cheng Qing¹,Li Ming¹,Peng Sha¹,Liang Lina¹,Lin Mao-ying²,Wang Huijun¹^ORCID,Lin Zhimiao¹²³^ORCID

Affiliation:

1. Dermatology Hospital, Southern Medical University , Guangzhou , China

2. Department of Dermatology, Xiamen Chang Gung Hospital , Xiamen , China

3. Department of Dermatology, Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; National Clinical Research Center for Skin and Immune Diseases , Beijing , China

Abstract

Flegel disease (also known as hyperkeratosis lenticular perstans, HLP) is a rare keratinization disorder characterized by multiple asymptomatic papules predominantly distributed on the distal extremities. Very recently, variants in SPTLC1, which encodes serine palmitoyltransferase, long chain base subunit-1 (SPTLC1), have been demonstrated to cause HLP. Herein, we report a patient with familial HLP caused by a novel variant in SPTLC1.

Funder

ational Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llad061/49456531/llad061.pdf

Reference5 articles.

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3. Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases;Lone;Proc Natl Acad Sci U S A,2020

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5. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis;Mohassel;Nat Med,2021