Analysis of SLC39A4 gene mutation in a patient with acrodermatitis enteropathica.
- Author:
Yunzhu MU
1
;
Zhengzhong ZHANG
;
Ping YANG
;
Hao YANG
;
Yiping LIU
;
Linli LIU
;
Xing CHEN
Author Information
- Publication Type:Case Reports
- MeSH: Acrodermatitis; genetics; Adolescent; Base Sequence; Cation Transport Proteins; genetics; Exons; Homozygote; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Zinc; deficiency
- From: Chinese Journal of Medical Genetics 2017;34(3):387-389
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect pathogenic mutation of the SLC39A4 gene in a male patient with acrodermatitis enteropathica (AE).
METHODSPeripheral 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.
RESULTSThe 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.
CONCLUSIONThe 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.
