A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and Laryngeal Mucosa

J Invest Dermatol. 2019 May;139(5):1187-1190. doi: 10.1016/j.jid.2018.09.038. Epub 2018 Dec 5.

Authors

Jong Hoon Kim¹, Song-Ee Kim¹, Hae Seok Park¹, Si-Hyung Lee¹, Sang Eun Lee¹, Soo-Chan Kim²

Affiliations

¹ Department of Dermatology and Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
² Department of Dermatology and Cutaneous Biology Research Institute, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. Electronic address: kimsc@yuhs.ac.

PMID: 30528827
DOI: 10.1016/j.jid.2018.09.038

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Biopsy, Needle
Codon, Nonsense / genetics*
Desmoglein 3 / genetics*
Epidermolysis Bullosa / genetics*
Epidermolysis Bullosa / pathology*
Female
Follow-Up Studies
Genetic Predisposition to Disease*
Humans
Immunoblotting
Immunohistochemistry
Infant
Laryngeal Mucosa / pathology
Monitoring, Physiologic
Mouth Mucosa / pathology
Pedigree
Republic of Korea
Skin Diseases, Vesiculobullous / genetics
Skin Diseases, Vesiculobullous / pathology

Substances

Codon, Nonsense
DSG3 protein, human
Desmoglein 3