Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa

In Kyung Jeon, Song Ee Kim, Soo Chan Kim

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Junctional epidermolysis bullosa (JEB) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 genes encoding the α3-, β3- and γ2-chains, respectively, of laminin-332. JEB Herlitz type (JEB-H) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin-332. Here, we report a proband with JEB-H who is a compound heterozygote for two novel mutations in LAMC2; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.

Original languageEnglish
Pages (from-to)322-324
Number of pages3
JournalJournal of Dermatology
Volume41
Issue number4
DOIs
Publication statusPublished - 2014 Jan 1

Fingerprint

Junctional Epidermolysis Bullosa
Mutation
Genes
Nonsense Codon
Insertional Mutagenesis
Missense Mutation
Heterozygote
Skin Diseases
Skin
kalinin

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

@article{1523309049bf4d98bd42c9913ebe3c6f,
title = "Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa",
abstract = "Junctional epidermolysis bullosa (JEB) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 genes encoding the α3-, β3- and γ2-chains, respectively, of laminin-332. JEB Herlitz type (JEB-H) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin-332. Here, we report a proband with JEB-H who is a compound heterozygote for two novel mutations in LAMC2; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.",
author = "Jeon, {In Kyung} and Kim, {Song Ee} and Kim, {Soo Chan}",
year = "2014",
month = "1",
day = "1",
doi = "10.1111/1346-8138.12413",
language = "English",
volume = "41",
pages = "322--324",
journal = "Journal of Dermatology",
issn = "0385-2407",
publisher = "Wiley-Blackwell",
number = "4",

}

Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa. / Jeon, In Kyung; Kim, Song Ee; Kim, Soo Chan.

In: Journal of Dermatology, Vol. 41, No. 4, 01.01.2014, p. 322-324.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa

AU - Jeon, In Kyung

AU - Kim, Song Ee

AU - Kim, Soo Chan

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Junctional epidermolysis bullosa (JEB) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 genes encoding the α3-, β3- and γ2-chains, respectively, of laminin-332. JEB Herlitz type (JEB-H) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin-332. Here, we report a proband with JEB-H who is a compound heterozygote for two novel mutations in LAMC2; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.

AB - Junctional epidermolysis bullosa (JEB) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the LAMA3, LAMB3 and LAMC2 genes encoding the α3-, β3- and γ2-chains, respectively, of laminin-332. JEB Herlitz type (JEB-H) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin-332. Here, we report a proband with JEB-H who is a compound heterozygote for two novel mutations in LAMC2; a missense mutation (c.79G>A) and an insertion mutation (382insT) leading to a premature termination codon.

UR - http://www.scopus.com/inward/record.url?scp=84897489892&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84897489892&partnerID=8YFLogxK

U2 - 10.1111/1346-8138.12413

DO - 10.1111/1346-8138.12413

M3 - Article

VL - 41

SP - 322

EP - 324

JO - Journal of Dermatology

JF - Journal of Dermatology

SN - 0385-2407

IS - 4

ER -