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Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein‐1 gene mutation
Author(s) -
Cheng Ruhong,
Yan Ming,
Ni Cheng,
Zhang Jia,
Li Ming,
Yao Zhirong
Publication year - 2016
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.13431
Subject(s) - exon , genetics , gene , mutation , biology , gene mutation , hyperkeratosis , intron , medicine , microbiology and biotechnology
Recently, homozygous mutations in the desmoglein‐1 ( DSG 1) gene and heterozygous mutation in the desmoplakin ( DSP ) gene have been demonstrated to be associated with severe dermatitis, multiple allergies and metabolic wasting ( SAM ) syndrome (Mendelian Inheritance in Man no. 615508). We aim to identify the molecular basis for a Chinese pedigree of SAM syndrome. A Chinese pedigree of SAM syndrome was subjected to mutation detection in the DSG 1 gene. Sequence analysis of the DSG 1 gene and quantitative reverse transcriptase polymerase chain reaction analysis for gene expression of DSG 1 using cDNA derived from the epidermis of patients and controls were both performed. Skin biopsies were also taken from patients for pathological study and transmission electron microscopy observation. Novel homozygous splicing mutation c.1892‐1delG in the exon–intron border of the DSG 1 gene has been demonstrated to be associated with SAM syndrome. We report a new family of SAM syndrome of Asian decent and expand the spectrum of mutations in the DSG 1 gene.