Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma
Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the first weeks or months after birth. Pathogenesis...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2019-01-01
|
Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2018.00645/full |
id |
doaj-e481e9a3557c417aa4f3f862d92d0e03 |
---|---|
record_format |
Article |
spelling |
doaj-e481e9a3557c417aa4f3f862d92d0e032020-11-24T23:52:44ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-01-01910.3389/fgene.2018.00645419822Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar KeratodermaYuwei Li0Yuwei Li1Lili Tang2Lili Tang3Yang Han4Yang Han5Liyun Zheng6Liyun Zheng7Qi Zhen8Qi Zhen9Sen Yang10Min Gao11Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, ChinaKey Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, ChinaKey Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, ChinaKey Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, ChinaKey Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, ChinaKey Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, ChinaInstitute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, ChinaEpidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the first weeks or months after birth. Pathogenesis of EPPK is determined by mutations in the keratin gene (KRT9). Thirty three mutations in the KRT9 gene from 100 EPPK families have been identified. Among these, 23 mutations are located in the 1A region (a mutation hot spot region), 7 are located in the 2B region, and the remaining 3 are synonymous mutations. In this study, three heterozygous mutations (p.N161S, p.R163W, and p.R163Q), located in regions of the gene encoding the conserved central a-helix rod domain, were detected in the KRT9 gene of the three large Chinese families. This study confirms that codon 163 (48 of 100 cases) is a hot spot mutation site for KRT9. Additional findings identified p.N161S (4%) and p.R163W (4%) as potential hot spot mutations for EPPK associated with knuckle pads, and p.R163Q (15 of 100 cases) as the hot spot mutation of EPPK not occurring in combination with knuckle pads. In conjunction with future studies, this research may help lay the foundation for genetics counseling, prenatal diagnosis and clinical treatment of EPPK.https://www.frontiersin.org/article/10.3389/fgene.2018.00645/fullepidermolytic palmoplantar keratodermagene mutationhot spotKRT9 geneknuckle pads |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yuwei Li Yuwei Li Lili Tang Lili Tang Yang Han Yang Han Liyun Zheng Liyun Zheng Qi Zhen Qi Zhen Sen Yang Min Gao |
spellingShingle |
Yuwei Li Yuwei Li Lili Tang Lili Tang Yang Han Yang Han Liyun Zheng Liyun Zheng Qi Zhen Qi Zhen Sen Yang Min Gao Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma Frontiers in Genetics epidermolytic palmoplantar keratoderma gene mutation hot spot KRT9 gene knuckle pads |
author_facet |
Yuwei Li Yuwei Li Lili Tang Lili Tang Yang Han Yang Han Liyun Zheng Liyun Zheng Qi Zhen Qi Zhen Sen Yang Min Gao |
author_sort |
Yuwei Li |
title |
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma |
title_short |
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma |
title_full |
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma |
title_fullStr |
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma |
title_full_unstemmed |
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma |
title_sort |
genetic analysis of krt9 gene revealed previously known mutations and genotype-phenotype correlations in epidermolytic palmoplantar keratoderma |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Genetics |
issn |
1664-8021 |
publishDate |
2019-01-01 |
description |
Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the first weeks or months after birth. Pathogenesis of EPPK is determined by mutations in the keratin gene (KRT9). Thirty three mutations in the KRT9 gene from 100 EPPK families have been identified. Among these, 23 mutations are located in the 1A region (a mutation hot spot region), 7 are located in the 2B region, and the remaining 3 are synonymous mutations. In this study, three heterozygous mutations (p.N161S, p.R163W, and p.R163Q), located in regions of the gene encoding the conserved central a-helix rod domain, were detected in the KRT9 gene of the three large Chinese families. This study confirms that codon 163 (48 of 100 cases) is a hot spot mutation site for KRT9. Additional findings identified p.N161S (4%) and p.R163W (4%) as potential hot spot mutations for EPPK associated with knuckle pads, and p.R163Q (15 of 100 cases) as the hot spot mutation of EPPK not occurring in combination with knuckle pads. In conjunction with future studies, this research may help lay the foundation for genetics counseling, prenatal diagnosis and clinical treatment of EPPK. |
topic |
epidermolytic palmoplantar keratoderma gene mutation hot spot KRT9 gene knuckle pads |
url |
https://www.frontiersin.org/article/10.3389/fgene.2018.00645/full |
work_keys_str_mv |
AT yuweili geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT yuweili geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT lilitang geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT lilitang geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT yanghan geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT yanghan geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT liyunzheng geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT liyunzheng geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT qizhen geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT qizhen geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT senyang geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma AT mingao geneticanalysisofkrt9generevealedpreviouslyknownmutationsandgenotypephenotypecorrelationsinepidermolyticpalmoplantarkeratoderma |
_version_ |
1725472099177332736 |