Epidermolysis bullosa simplex in Japanese and Korean patients: Genetic studies in 19 cases

K. Yasukawa, D. Sawamura, M. Goto, H. Nakamura, S. Y. Jung, S. C. Kim, H. Shimizu

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

Background: Epidermolysis bullosa simplex (EBS) comprises a group of hereditary bullous diseases characterized by intraepidermal blistering caused by mutations in either keratin gene, KRT5 or KRT14. Significant correlation between the position of mutations within these proteins and the clinical severity of EBS has been noted. A recent report showed EBS cases in Israel had unique genetic features compared with European or U.S.A. associated families, which suggests that the ethnic and geographical features of EBS patients may be different. Objectives: To assess the possibility that EBS may present with certain specific features in Japanese and Koreans and to identify additional EBS mutations for genotype/phenotype correlation. Methods: EBS was clinically diagnosed and confirmed by transmission electron microscopic examination of a skin biopsy. Mutation analysis of KRT5 and KRT14 was performed by direct sequencing in 17 Japanese and two Korean EBS patients. Results: We have identified six novel KRT5 missense mutations (V143D, D158V, V186M, Q191P, R352S, G517D). R352S is the first mutation in the 2A domain. Most of these novel mutations changed amino acids that were evolutionarily conserved. Eight including all five mutations in EBS-Dowling-Meara patients have been previously reported. We were unable to detect mutations in five sporadic EBS-Koebner patients. The proportion of mutations in KRT5 (11 of 14; 78%) is higher than that for KRT14 mutations (3 of 14; 21%) in these Japanese and Korean EBS patients. Conclusions: Japanese and Korean patients with EBS showed very similar phenotype and genotype correlations with patients from Western countries. Whether the higher proportion of KRT5 mutations is a definite characteristic of Japanese and Korean patients with EBS or not, requires further research into mutations in Japanese and Korean people.

Original languageEnglish
Pages (from-to)313-317
Number of pages5
JournalBritish Journal of Dermatology
Volume155
Issue number2
DOIs
Publication statusPublished - 2006 Aug 1

Fingerprint

Epidermolysis Bullosa Simplex
Mutation
Genetic Association Studies
Inborn Genetic Diseases
Israel
Missense Mutation
Keratins

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Yasukawa, K. ; Sawamura, D. ; Goto, M. ; Nakamura, H. ; Jung, S. Y. ; Kim, S. C. ; Shimizu, H. / Epidermolysis bullosa simplex in Japanese and Korean patients : Genetic studies in 19 cases. In: British Journal of Dermatology. 2006 ; Vol. 155, No. 2. pp. 313-317.
@article{ed67ff9327b14333a93a72d954d25019,
title = "Epidermolysis bullosa simplex in Japanese and Korean patients: Genetic studies in 19 cases",
abstract = "Background: Epidermolysis bullosa simplex (EBS) comprises a group of hereditary bullous diseases characterized by intraepidermal blistering caused by mutations in either keratin gene, KRT5 or KRT14. Significant correlation between the position of mutations within these proteins and the clinical severity of EBS has been noted. A recent report showed EBS cases in Israel had unique genetic features compared with European or U.S.A. associated families, which suggests that the ethnic and geographical features of EBS patients may be different. Objectives: To assess the possibility that EBS may present with certain specific features in Japanese and Koreans and to identify additional EBS mutations for genotype/phenotype correlation. Methods: EBS was clinically diagnosed and confirmed by transmission electron microscopic examination of a skin biopsy. Mutation analysis of KRT5 and KRT14 was performed by direct sequencing in 17 Japanese and two Korean EBS patients. Results: We have identified six novel KRT5 missense mutations (V143D, D158V, V186M, Q191P, R352S, G517D). R352S is the first mutation in the 2A domain. Most of these novel mutations changed amino acids that were evolutionarily conserved. Eight including all five mutations in EBS-Dowling-Meara patients have been previously reported. We were unable to detect mutations in five sporadic EBS-Koebner patients. The proportion of mutations in KRT5 (11 of 14; 78{\%}) is higher than that for KRT14 mutations (3 of 14; 21{\%}) in these Japanese and Korean EBS patients. Conclusions: Japanese and Korean patients with EBS showed very similar phenotype and genotype correlations with patients from Western countries. Whether the higher proportion of KRT5 mutations is a definite characteristic of Japanese and Korean patients with EBS or not, requires further research into mutations in Japanese and Korean people.",
author = "K. Yasukawa and D. Sawamura and M. Goto and H. Nakamura and Jung, {S. Y.} and Kim, {S. C.} and H. Shimizu",
year = "2006",
month = "8",
day = "1",
doi = "10.1111/j.1365-2133.2006.07285.x",
language = "English",
volume = "155",
pages = "313--317",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "2",

}

Epidermolysis bullosa simplex in Japanese and Korean patients : Genetic studies in 19 cases. / Yasukawa, K.; Sawamura, D.; Goto, M.; Nakamura, H.; Jung, S. Y.; Kim, S. C.; Shimizu, H.

In: British Journal of Dermatology, Vol. 155, No. 2, 01.08.2006, p. 313-317.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Epidermolysis bullosa simplex in Japanese and Korean patients

T2 - Genetic studies in 19 cases

AU - Yasukawa, K.

AU - Sawamura, D.

AU - Goto, M.

AU - Nakamura, H.

AU - Jung, S. Y.

AU - Kim, S. C.

AU - Shimizu, H.

PY - 2006/8/1

Y1 - 2006/8/1

N2 - Background: Epidermolysis bullosa simplex (EBS) comprises a group of hereditary bullous diseases characterized by intraepidermal blistering caused by mutations in either keratin gene, KRT5 or KRT14. Significant correlation between the position of mutations within these proteins and the clinical severity of EBS has been noted. A recent report showed EBS cases in Israel had unique genetic features compared with European or U.S.A. associated families, which suggests that the ethnic and geographical features of EBS patients may be different. Objectives: To assess the possibility that EBS may present with certain specific features in Japanese and Koreans and to identify additional EBS mutations for genotype/phenotype correlation. Methods: EBS was clinically diagnosed and confirmed by transmission electron microscopic examination of a skin biopsy. Mutation analysis of KRT5 and KRT14 was performed by direct sequencing in 17 Japanese and two Korean EBS patients. Results: We have identified six novel KRT5 missense mutations (V143D, D158V, V186M, Q191P, R352S, G517D). R352S is the first mutation in the 2A domain. Most of these novel mutations changed amino acids that were evolutionarily conserved. Eight including all five mutations in EBS-Dowling-Meara patients have been previously reported. We were unable to detect mutations in five sporadic EBS-Koebner patients. The proportion of mutations in KRT5 (11 of 14; 78%) is higher than that for KRT14 mutations (3 of 14; 21%) in these Japanese and Korean EBS patients. Conclusions: Japanese and Korean patients with EBS showed very similar phenotype and genotype correlations with patients from Western countries. Whether the higher proportion of KRT5 mutations is a definite characteristic of Japanese and Korean patients with EBS or not, requires further research into mutations in Japanese and Korean people.

AB - Background: Epidermolysis bullosa simplex (EBS) comprises a group of hereditary bullous diseases characterized by intraepidermal blistering caused by mutations in either keratin gene, KRT5 or KRT14. Significant correlation between the position of mutations within these proteins and the clinical severity of EBS has been noted. A recent report showed EBS cases in Israel had unique genetic features compared with European or U.S.A. associated families, which suggests that the ethnic and geographical features of EBS patients may be different. Objectives: To assess the possibility that EBS may present with certain specific features in Japanese and Koreans and to identify additional EBS mutations for genotype/phenotype correlation. Methods: EBS was clinically diagnosed and confirmed by transmission electron microscopic examination of a skin biopsy. Mutation analysis of KRT5 and KRT14 was performed by direct sequencing in 17 Japanese and two Korean EBS patients. Results: We have identified six novel KRT5 missense mutations (V143D, D158V, V186M, Q191P, R352S, G517D). R352S is the first mutation in the 2A domain. Most of these novel mutations changed amino acids that were evolutionarily conserved. Eight including all five mutations in EBS-Dowling-Meara patients have been previously reported. We were unable to detect mutations in five sporadic EBS-Koebner patients. The proportion of mutations in KRT5 (11 of 14; 78%) is higher than that for KRT14 mutations (3 of 14; 21%) in these Japanese and Korean EBS patients. Conclusions: Japanese and Korean patients with EBS showed very similar phenotype and genotype correlations with patients from Western countries. Whether the higher proportion of KRT5 mutations is a definite characteristic of Japanese and Korean patients with EBS or not, requires further research into mutations in Japanese and Korean people.

UR - http://www.scopus.com/inward/record.url?scp=33745875983&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33745875983&partnerID=8YFLogxK

U2 - 10.1111/j.1365-2133.2006.07285.x

DO - 10.1111/j.1365-2133.2006.07285.x

M3 - Article

C2 - 16882168

AN - SCOPUS:33745875983

VL - 155

SP - 313

EP - 317

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 2

ER -