Scopus
YÖKSİS DOI Eşleşti
SJR Q2
Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey
Biochemical Genetics · Şubat 2025
YÖKSİS Kayıtları
Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey
Biochemical Genetics · 2025 SCI-Expanded
Dr. Öğr. Üyesi BANU KADIOĞLU YILMAZ →
YÖKSİS Kayıtları — ISSN Eşleşmesi
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2007 ISSN: 0006-2928 SCI-Expanded
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Is the IL 6 174G C Gene Polymorphism Related to the Disease Severity Score in Turkish Children with Familial Mediterranean Fever
2016 ISSN: 0006-2928 SCI-Expanded
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Leptin, NPY, Melatonin and Zinc Levels in Experimental Hypothyroidism and Hyperthyroidism: The Relation to Zinc
2017 ISSN: 0006-2928 SCI-Expanded
Prof. Dr. ABDULKERİM KASIM BALTACI →
Effect of Zinc and Melatonin on Oxidative Stress and Serum Inhibin-B Levels in a Rat Testicular Torsion-Detorsion Model.
2017 ISSN: 0006-2928 SCI-Expanded
Prof. Dr. ABDULKERİM KASIM BALTACI →
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever
2019 ISSN: 0006-2928 SCI-Expanded
Prof. Dr. RESUL YILMAZ →
Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey
2025 ISSN: 0006-2928 SCI-Expanded Q4
Dr. Öğr. Üyesi BANU KADIOĞLU YILMAZ →
Makale Bilgileri
Dergi
Biochemical Genetics
ISSN00062928
Yayın TarihiŞubat 2025
Cilt / Sayfa63 · 896-905
Scopus ID2-s2.0-85199281640
Özet
This study aims to determine the allele and genotype frequency, evaluate genotype–phenotype correlation and contribute to the spectrum of pathogenic variants in the PAH gene. Ninety-three individuals diagnosed with PKU were included in the study. Next-generation sequencing was utilized for detecting variants in the PAH gene. Copy Number Variations in patients without biallelic pathogenic variant were investigated by Multiplex Ligation-dependent Probe Amplification method. Genotype–phenotype correlations and genotype-based phenotype predictions were examined by comparing molecular test results with BIOPKUdb database. The clinical distributions of the patients were as follows: classic PKU 21% (n = 19), mild PKU 3% (n = 3), and mild hyperphenylalaninemia 76% (n = 71), respectively. Thirty-nine distinct variants and 70 distinct genotypes were found in patients. The most frequently observed variant was p.(Ala300Ser) (13.9%) and the most frequently observed genotype was p.[Ala300Ser];[Ala300Ser] (5.6%). Compound heterozygous genotypes (%69) were more prevalent than homozygous genotypes. A novel variant, c.441+4A>C, was observed. Predicted metabolic phenotypes in the database showed consistency with patient phenotypes (n = 33/41). BH4 responsiveness showed partial consistency with database predictions (n = 13/25). Establishing genotype–phenotype correlations can facilitate personalized management approaches. Overall, this study contributes to understanding the genetic basis and clinical course of PKU.
Yazarlar (8)
1
Özgür Balasar
ORCID: 0000-0002-2945-9355
2
Banu Kadıoğlu Yılmaz
3
Müşerref Başdemirci
ORCID: 0000-0001-9012-9307
4
Hatice Koçak Eker
ORCID: 0000-0003-2735-6739
5
Büşra Eser Çavdartepe
ORCID: 0000-0002-3023-302X
6
Levent Şimşek
ORCID: 0000-0001-7729-3970
7
Ebru Tunçez
ORCID: 0000-0002-0258-7779
8
Fahrettin Duymus
Anahtar Kelimeler
Genotype–phenotype correlation
Novel variant
PAH gene
Phenylketonuria
Kurumlar
Konya City Hospital
Konya Turkey
Selçuk Tip Fakültesi
Konya Turkey
Scimago Dergi (ISSN Eşleşmesi)
Biochemical Genetics
Q2
SJR Skoru0,544
H-Index50
YayıncıSpringer
ÜlkeUnited States
Ecology, Evolution, Behavior and Systematics (Q2)
Medicine (miscellaneous) (Q2)
Biochemistry (Q3)
Genetics (Q3)
Molecular Biology (Q3)
Metrikler
2
Atıf
8
Yazar
4
Anahtar Kelime