Clinical and genetic analysis of pediatric patients with Wilson disease

Özet

Background/Aims: Wilson disease (WD, MIM# 277900) is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase. Detecting mutations and single nucleotide polymorphisms (SNPs) of the ATP7B gene in Turkish pediatric WD patients (n=32) and controls (n=52) is the aim of this research. Materials and Methods: For screening mutations and SNPs of the ATP7B gene, sequencing was performed. Results: Mutations were determined in the ATP7B gene in 23 out of the 32 pediatric patients. The mutation de- tection rate in the ATP7B gene of the pediatric Turkish WD patients was 71.875%. Fifteen different mutations were determined in the ATP7B gene. These mutations were distributed throughout the ATP7B gene and were as follows: 2 deletion, 1 insertion, 3 nonsense, and 9 missense mutations. Four of these, including c.3111delC (1 deletion) and c.2363C>T, c.3733C>A, and c.3451C>T (3 missense) mutations, were detected in the Turkish WD patients. Eleven polymorphisms were detected in both groups. Among these, c.3727G>A (SNP) was reported in the Wilson Disease Mutation Database by our group. Nine out of the thirty-two pediatric Turkish WD patients had no mutations in the ATP7B gene. Conclusion: To find the cause of WD in pediatric patients who have no mutation in ATP7B, additional research is necessary.