International Journal of Medical Laboratory
مجله بین المللی علوم آزمایشگاهی
IJML
Medical Sciences
http://ijml.ssu.ac.ir
1
admin
2423-3706
2423-3714
en
jalali
1401
8
1
gregorian
2022
11
1
9
4
online
1
fulltext
en
A Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III
ژنتیک/ بیوتکنولوژی
Genetics/ Biotechnology
گزارش مورد
case report
<div style="text-align: justify;"><span style="font-size:12pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times=""><b><span style="font-size:10.0pt"><span style="line-height:115%">Background and Aims:</span></span></b><span style="font-size:10.0pt"><span style="line-height:115%"> 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. </span></span></span></span></span><br>
<span style="font-size:12pt"><span style="line-height:115%"><span new="" roman="" style="font-family:" times=""><b><span style="font-size:10.0pt"><span style="line-height:115%">Materials and Methods:</span></span></b><span style="font-size:10.0pt"><span style="line-height:115%"> 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.</span></span></span></span></span><br>
<b><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times="">Results and Conclusion:</span></span></b><span style="font-size:10.0pt"><span new="" roman="" style="font-family:" times=""> 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.</span></span></div>
Hypertyrosinemia, Mutation, Whole exome sequencing
256
261
http://ijml.ssu.ac.ir/browse.php?a_code=A-10-475-1&slc_lang=en&sid=1
Fatemeh
Sarkargar
فاطمه
سرکارگر
Sarasarkargar@yahoo.com