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Molecular Genetics of a Cohort of 635 Cases of Phenylketonuria in a Consanguineous Population Publisher Pubmed



Shirzadeh T1 ; Saeidian AH2, 3 ; Bagherian H1 ; Salehpour S4, 5 ; Setoodeh A6, 7 ; Alaei MR4 ; Youssefian L2, 3, 8 ; Samavat A9 ; Touati A10 ; Fallah MS1 ; Vahidnezhad H2, 11 ; Karimipoor M11 ; Azadmehr S1 ; Raeisi M12, 13 Show All Authors
Authors
  1. Shirzadeh T1
  2. Saeidian AH2, 3
  3. Bagherian H1
  4. Salehpour S4, 5
  5. Setoodeh A6, 7
  6. Alaei MR4
  7. Youssefian L2, 3, 8
  8. Samavat A9
  9. Touati A10
  10. Fallah MS1
  11. Vahidnezhad H2, 11
  12. Karimipoor M11
  13. Azadmehr S1
  14. Raeisi M12, 13
  15. Bandehi Sarhadi A1
  16. Zafarghandi Motlagh F1
  17. Jamali M1
  18. Zeinali Z1
  19. Abiri M14
  20. Zeinali S1, 15

Source: Journal of Inherited Metabolic Disease Published:2018


Abstract

Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene, characterized by intellectual deficit and neuropsychiatric complications in untreated patients with estimated frequency of about one in 10,000 to 15,000 live births. PAH deficiency can be detected by neonatal screening in nearly all cases with hyperphenylalaninemia on a heel prick blood spot. Molecular testing of the PAH gene can then be performed in affected family members. Herein, we report molecular study of 635 patients genetically diagnosed with PKU from all ethnicities in Iran. The disease-causing mutations were found in 611 (96.22%) of cases. To the best of our knowledge, this is the most comprehensive molecular genetics study of PKU in Iran, identifying 100 distinct mutations in the PAH gene, including 15 previously unreported mutations. Interestingly, we found unique cases of PKU with uniparental disomy, germline mosaicism, and coinheritance with another Mendelian single-gene disorder that provides new insights for improving the genetic counseling, prenatal diagnosis (PND), and/or pre-implantation genetic diagnosis (PGD) for the inborn error of metabolism group of disorders. © 2018, SSIEM.
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