Objective:To analyze the SLC39A4 gene mutation and mutating patterns in a sporadic Chinese patient with acrodermatitis enteropathica (AE) so as to provide a basis for gene diagnosis and genetic counseling of the disorder. Methods:Genomic DNA was extracted from whole blood by standard methods from one male AE patient and his parents. DNA samples were also extracted from 100 unrelated,normally individuals as controls. The whole coding region of SLC39A4 was amplified by PCR and products were analyzed by direct sequencing. Results:Molecular analysis of the SLC39A4 gene in this case of AE revealed a novel heterozygous mutation c.831G>A in exon 5 and c.1617delA in exon 10,which altered a methionine residue with isoleucine residue at position 277 of the protein sequence and caused a reading frame shift,respectively. The patient’s father was found to only carry heterozygous c.831G>A mutation,while his mother carried heterozygous c.1617delA mutation. The two novel mutations were not observed in 100 control individuals selected from a Chinese population. Conclusion:Our data suggest that c.831G>A and c.1617delA mutation of SLC39A4 gene is the genetic cause of AE.