Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.

ABSTRACT:

Background

Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism. Genes such as QDPR and PTS are essential in the BH4 metabolism. This study aims to identify disease-causing variants in HPA patients, which may be helpful in genetic counseling and prenatal diagnosis.

Methods

A total of 10 HPA patients were enrolled in this study. The coding and adjacent intronic regions of PTS and QDPR genes were examined using Sanger sequencing. Protein modeling was also performed for novel identified variants.

Results

Ten patients and a total of 20 alleles were studied, which led to the identification of 10 different variants. All variants identified i

SUBMITTER: Sadat Fatemi SH 

PROVIDER: S-EPMC9747554 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature