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Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.
- Source :
-
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Dec; Vol. 10 (12), pp. e2081. Date of Electronic Publication: 2022 Nov 16. - Publication Year :
- 2022
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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.<br />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.<br />Results: Ten patients and a total of 20 alleles were studied, which led to the identification of 10 different variants. All variants identified in PTS and QDPR were missense, except for the c.383&#95;407del variant in the QDPR. Also, three novel variants were identified in the QDPR, including c.79G>T, c.383&#95;407del and c.488G>A, and a novel variant, c.65C>G, in the PTS.<br />Conclusions: Despite the genetic similarities in the disease-causing variants, differences were observed in the Asian and European populations with our populations; As a result, similar but more extensive studies are needed to investigate the distribution of disease-causing variants in genes involved in non-PKU hyperphenylalaninemia.<br /> (© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
Details
- Language :
- English
- ISSN :
- 2324-9269
- Volume :
- 10
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Molecular genetics & genomic medicine
- Publication Type :
- Academic Journal
- Accession number :
- 36382472
- Full Text :
- https://doi.org/10.1002/mgg3.2081