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.