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Clinical and genetic analysis of pediatric patients with Wilson disease

Özlenen Şimşek Papur1, Sezin Aşık Akman, Orhan Terzioğlu

  • 1Department of Medical Biology and Genetics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey. ozlenen.simsek@deu.edu.tr.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology
|July 29, 2015
PubMed

Insights

Genetic analysis of Turkish pediatric Wilson disease (WD) patients revealed mutations in the ATP7B gene in 71.875% of cases. Further research is needed for WD patients lacking ATP7B mutations.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatric Medicine

Background:

  • Wilson disease (WD) is an inherited disorder affecting copper transport due to mutations in the ATP7B gene.
  • The ATP7B gene encodes a copper-transporting P-type ATPase essential for cellular copper homeostasis.
  • Genetic variations in ATP7B are the primary cause of Wilson disease.

Purpose of the Study:

  • To identify mutations and single nucleotide polymorphisms (SNPs) in the ATP7B gene of Turkish pediatric patients with Wilson disease.
  • To determine the mutation detection rate in the ATP7B gene for this cohort.
  • To characterize the spectrum of ATP7B mutations in Turkish pediatric WD patients.

Main Methods:

  • DNA sequencing was employed to screen for mutations and SNPs in the ATP7B gene.
  • The study involved 32 pediatric patients diagnosed with Wilson disease and 52 healthy controls from Turkey.
  • Genetic analysis focused on identifying variations across the entire ATP7B gene.

Main Results:

  • Mutations in the ATP7B gene were identified in 23 out of 32 pediatric WD patients, yielding a detection rate of 71.875%.
  • Fifteen distinct mutations were found, including 2 deletions, 1 insertion, 3 nonsense, and 9 missense mutations.
  • Four novel mutations (c.3111delC, c.2363C>T, c.3733C>A, c.3451C>T) were identified in Turkish WD patients, alongside 11 polymorphisms, including the previously reported c.3727G>A SNP.

Conclusions:

  • The ATP7B gene harbors causative mutations in a majority of Turkish pediatric Wilson disease patients.
  • A significant proportion of patients (9 out of 32) did not exhibit detectable mutations in the ATP7B gene.
  • Additional research is required to elucidate the genetic basis of Wilson disease in patients with no identified ATP7B mutations.
Abstract

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