Analysis of SLC39A4 gene mutation in a patient with acrodermatitis enteropathica

Objective To detect pathogenic mutation of the SLC39A4 gene in a male patient with acrodermatitis enteropathica (AE). Methods Peripheral venous blood sample and clinical data from the patient and his parents were collected. One hundred unrelated healthy individuals were recruited as controls. All coding exons and flanking exon-intron sequences of the SLC39A4 gene were analyzed by PCR and direct sequencing. Results The results revealed that the patient and his mother have both carried a novel frame-shift mutation c. 1110InsG (p.Gly370GlyfsX47→TGA) in exon 6. A novel nonsense mutation c. 958C>T (p.Q320X) in exon 5 was also detected in the patient and his father and grandmother. This novel mutation was not detected in the unaffected family members and 100 unrelated healthy controls. Conclusion The novel frame-shift mutation c. 1110InsG (p.Gly370GlyfsX47→TGA) derived from the mother and nonsense mutation c. 958C>T (p.Q320X) of the SLC39A4 gene derived from the father may underlie the disease in the patient. Key words: Acrodermatitis enteropathica; SLC39A4 gene; Mutation