• Qingwen Zhu, Keyu Zhu, Jing Wang, Wenjun Bian, and Jianxun Lu.
• Department of Prenatal screening and diagnosis center, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong.
• Medicine (Baltimore). 2019 Dec 1; 98 (49): e18284e18284.

AbstractTo study the relationship between genotype and clinical phenotype of major gene mutation sites in patients with Wilson disease (WD).Clinical and laboratory data were collected from 40 children with WD admitted to the hospital by high-pass sequencing. The basic clinical data of patients included the following: age, sex, first symptom, K-F ring, clinical classification, serum Ceruloplasmin (CP), 24 hours urine copper. High Frequency Mutations were identified in WD patients: Exon 8, Ar9778Leu, and study the relationship between high frequency mutation and clinical phenotype.The mutation frequency of 2333G>T(Arg778Leu) in Exon 8 was the highest (48%). The mutation frequency of Exon 13 at 2975C>T site was 29%. The age (t = 0.296, P = .768), sex (χ = 0.005, P = .944), first symptom (χ = 0.480, P = .449), K-F ring (χ = 0.321, P = .17), clinical classification (χ = 20.064, P > .969), serum CP levels (t = 0.007, P = .897) had no significant difference between Arg778Leu mutation group and non-Arg778Leu mutation group. Twenty-four-hour urinary copper levels (t = 12.134, P < .001,) in the Arg778Leu mutation group were higher than those in the Arg778Leu mutation group.Arg778Leu mutation is associated with 24 hours urinary copper. The study of the association between the type of gene mutation and the clinical phenotype has important implications for the occurrence regularity, pathogenesis, and disease progression in patients with WD.

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