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Updated: Feb 28, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Analysis of SLC39A4 gene mutation in a patient with acrodermatitis enteropathica]
Yunzhu Mu1, Zhengzhong Zhang, Ping Yang
1Department of Dermatology, the Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, China. laowaiaeo@163.com.
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 to TGA) in exon 6. A novel nonsense mutation c.958C to 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 to TGA) derived from the mother and nonsense mutation c.958C to T (p.Q320X) of the SLC39A4 gene derived from the father may underlie the disease in the patient.
