A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients

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Maryam Shaykholeslam Esfahani1, Sadeq Vallian1

  • 1Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, IR, Iran.

European Journal of Medical Genetics
|November 4, 2018
PubMed

Insights

Phenylketonuria (PKU), an autosomal recessive disease, is common in Iran. This study identified 34 PAH gene mutations in 140 Iranian PKU patients, aiding future carrier detection and prenatal diagnosis.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Human Population Studies

Background:

  • Phenylketonuria (PKU) is a significant autosomal recessive metabolic disorder.
  • PKU ranks as the second most common autosomal recessive disease in Iran, necessitating effective diagnostic approaches.
  • Understanding the mutation spectrum of the phenylalanine hydroxylase (PAH) gene is crucial for managing PKU in the Iranian population.

Purpose of the Study:

  • To conduct a comprehensive analysis of the PAH gene mutation spectrum in Iranian patients with classic PKU.
  • To establish an efficient diagnostic strategy for identifying disease-causing mutations in this population.
  • To provide data that facilitates carrier detection and prenatal diagnosis of PKU in Iran.

Main Methods:

  • Direct DNA sequencing of all 13 exons and exon-intron boundaries of the PAH gene.
  • Analysis of 280 unrelated chromosomes from 140 Iranian patients diagnosed with classic PKU.
  • Mutation detection rate achieved was 100%.

Main Results:

  • Thirty-four distinct mutations in the PAH gene were identified.
  • The most prevalent mutations were IVS10-11G>A (26.07%), p.P281L (19.3%), R261Q (12.86%), p.F39del (6.07%), and IVS11+1G>C (3.93%).
  • All other identified mutations occurred with a relative frequency below 3.5%.

Conclusions:

  • This study presents a comprehensive spectrum of PAH gene mutations in the Iranian population.
  • The findings are vital for improving carrier screening and prenatal diagnostic services for PKU in Iran.
  • Establishing the mutation profile is a key step towards effective genetic counseling and management of PKU.

Keywords:
Iranian populationMutation analysisPhenyalanine hydroxylasePhenylketonuria

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