Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation
Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation
复制标题
新型纯合桥粒芯糖蛋白1基因突变导致严重皮炎、多种过敏和代谢消耗综合征的中国家庭报告
DOI：
10.1111/1346-8138.13431
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发表时间：
2016-10-01
影响因子：
3.1
通讯作者：
Yao, Zhirong
中科院分区：
文献类型：
--
作者：
Cheng, Ruhong;Yan, Ming;Yao, Zhirong
最近，桥粒芯糖蛋白-1（DSG 1）基因中的纯合突变和桥粒斑蛋白（DSP）基因中的杂合突变已被证明与严重皮炎、多发性过敏和代谢性消耗（SAM）综合征相关（Mendelian Inheritance in Man no.615508）。我们的目的是确定SAM综合征中国家系的分子基础。对一个SAM综合征中国家系进行DSG 1基因突变检测。DSG 1基因的序列分析和定量逆转录聚合酶链反应分析DSG 1的基因表达，使用来自患者和对照表皮的cDNA进行。同时取患者皮肤组织进行病理学检查和透射电镜观察。新的纯合剪接突变c.1892-1delG在外显子-内含子边界的DSG 1基因已被证明与SAM综合征。我们报告了一个新的亚洲人SAM综合征家族，并扩大了DSG 1基因突变谱。
Recently, homozygous mutations in the desmoglein-1 (DSG1) 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 DSG1 gene. Sequence analysis of the DSG1 gene and quantitative reverse transcriptase polymerase chain reaction analysis for gene expression of DSG1 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 DSG1 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 DSG1 gene.