Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia

Hidenobu Kaneyasu, Kazumasa Takahashi, Naoki Ohta, Seigo Okada, Sasagu Kimura, Shuichiro Yasuno, Susumu Murata, Shunsaku Katsura, Naoyuki Yamada, Koji Shiraishi, Junko Tsuda, Shunsuke Miyai, Hiroki Kurahashi, Shunji Hasegawa, Yutaka Shimomura

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by the blistering of the skin and mucous membranes. Although the molecular basis of EB has been significantly elucidated, the precise phenotypes of the lethal types of EB have not been completely characterized. Herein, we report a severe case of EB with pyloric atresia (PA). The patient was a Japanese boy who not only had skin lesions but also various complications such as PA, dysphagia, hypotonia, infectious keratitis with corneal ulcer, obstructive uropathy and protein-losing enteropathy. Genetic analysis led to the identification of two novel compound heterozygous mutations in the last exon of the plectin (PLEC) gene. Based on this finding, EB simplex with PA was diagnosed. Immunostaining with anti-plectin antibodies revealed truncated plectin proteins lacking the C-terminus in the patient's skin. We also conducted a prenatal diagnosis in subsequent pregnancy. Our report further highlights the crucial role of plectin in many organs and provides valuable information regarding the phenotypes resulting from mutations in the PLEC gene.

Original languageEnglish
Pages (from-to)239-244
Number of pages6
JournalJournal of Dermatology
Volume50
Issue number2
DOIs
Publication statusPublished - 02-2023

All Science Journal Classification (ASJC) codes

  • Dermatology

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