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一个中国蒙古族进行性对称性红斑角化症家系中TYR基因致病变异的分析

Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma.

作者信息

Duan Yan, Li Linye, He Yue, Wang Jian

机构信息

Department of Dermatology, People's Hospital of Inner Mongolia Autonomous Region, Hohhot, Inner Mongolia, China.

Graduate School, Inner Mongolia Medical University, Hohhot, Inner Mongolia, China.

出版信息

Indian Dermatol Online J. 2021 Nov 22;12(6):896-899. doi: 10.4103/idoj.IDOJ_665_20. eCollection 2021 Nov-Dec.

DOI:10.4103/idoj.IDOJ_665_20
PMID:34934729
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8653735/
Abstract

This study sought to analyse tyrosinase (TYR) pathogenic variants in a Chinese Mongolian family with progressive symmetric erythrokeratoderma (PSEK). We collected clinical data and peripheral blood DNA samples from the initial patient and his family members for polymerase chain reaction (PCR) amplification and whole-exome sequencing of the coding region of TYR. Genetic analysis showed a TYR insertion (c. 929_930insC; p.Arg311Lysfs*7) in the patient that was not detected in any of the normal family members or in 100 healthy controls. This report provides the first description of this TYR pathogenic variant (c. 929_930insC) in a family; functional studies and further research are needed for an in-depth analysis.

摘要

本研究旨在分析一个患有进行性对称性红斑角化病（PSEK）的中国蒙古族家系中的酪氨酸酶（TYR）致病变异。我们收集了首例患者及其家庭成员的临床资料和外周血DNA样本，用于酪氨酸酶编码区的聚合酶链反应（PCR）扩增和全外显子测序。基因分析显示，患者存在一个TYR插入突变（c. 929_930insC；p.Arg311Lysfs*7），而在任何正常家庭成员或100名健康对照中均未检测到。本报告首次描述了该家系中的这种TYR致病变异（c. 929_930insC）；需要进行功能研究和进一步研究以进行深入分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6fd5/8653735/893a0be3381f/IDOJ-12-896-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6fd5/8653735/e61cc4e7585a/IDOJ-12-896-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6fd5/8653735/1091dbed5b41/IDOJ-12-896-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6fd5/8653735/893a0be3381f/IDOJ-12-896-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6fd5/8653735/e61cc4e7585a/IDOJ-12-896-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6fd5/8653735/1091dbed5b41/IDOJ-12-896-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6fd5/8653735/893a0be3381f/IDOJ-12-896-g003.jpg

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本文引用的文献

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[Progressive symmetric erythrokeratodermia: Activating mutations of TRPM4].[进行性对称性红斑角皮症：TRPM4基因的激活突变]
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Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
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Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of and is allelic with dominant monilethrix.隐性进行性对称性红斑角皮病由纯合功能丧失突变引起，与显性念珠状发等位。
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The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.连接蛋白30.3中的错义突变G12D可导致门德斯·达·科斯塔变异性红斑角皮病和戈特龙进行性对称性红斑角皮病。
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