A Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III

Fatemeh  Sarkargar; Seyed Ali  Madani Manshadi; Ehsan Zare Mehrjardi; Hosein  Khodaei; Seyed Mehdi  Kalantar; Seyed Ahmad  Mohamamdi

doi:10.18502/ijml.v9i4.11619

Fatemeh Sarkargar Meybod Genetic Research Center, Meybod, Yazd, Iran
Seyed Ali Madani Manshadi Meybod Genetic Research Center, Meybod, Yazd, Iran
Ehsan Zare Mehrjardi Meybod Genetic Research Center, Meybod, Yazd, Iran
Hosein Khodaei Meybod Genetic Research Center, Meybod, Yazd, Iran
Seyed Mehdi Kalantar Meybod Genetic Research Center, Meybod, Yazd, Iran
Seyed Ahmad Mohamamdi Meybod Genetic Research Center, Meybod, Yazd, Iran

DOI: https://doi.org/10.18502/ijml.v9i4.11619

Keywords: Hypertyrosinemia, Mutation, Whole exome sequencing

Abstract

Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives.

Materials and Methods: The proband was one and half-year-old Iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. In this study, we used Whole-Exome Sequencing to identify the genetic reason for the disease and the funded mutation confirmed by Sanger sequencing.

Results and Conclusion: Through whole-exome sequencing screening of heterozygotes c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in the HPD gene and genetically confirmed by Sanger sequencing. There were heterozygous conditions c.413C>T (p.T138M) and c.75G.A (p.W25Ter) in father and mother respectively. This mutation in her parents was also confirmed by Sanger sequencing.