Molecular-Genetic Study of Phenylketonuria in Patients from Georgia

Гундорова, П.; Кузнецова, И. А.; Agladze, Dodo; Margvelashvili, L.; Kldiashvili, Ekaterina; Kvlividze, O; Kutsev, Sergey I.; Polyakov, A. V.

doi:10.1134/s1022795419080064

Cited by 4 publications

(3 citation statements)

References 15 publications

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“…On the other hand, Song et al reported that 0.5% of the northern Chinese population have IVS4+1G>A mutation (21). Moreover, the frequency of IVS4+1G>A mutation in PKU patients in Georgia was reported to be 0.7% by Gundorova et al (22). The limitations of the present study were the number of exons, the length of the study, and the lack of sufficient funds to investigate the mutations of the entire gene.…”

Section: Discussionmentioning

confidence: 59%

Detection of IVS4+1G>A mutation in phenylalanine hydroxylase gene in North of Iran using PCR-sequencing

Chelak

Koohpar

2023

J Shahrekord Univ Med Sci

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Background and aims: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Mutations in the phenylalanine hydroxylase (PAH) gene are the main reason for the incidence of PKU. To date, more than 1180 variants have been detected in the PAH gene. Given that the distribution pattern of mutations in the PAH gene is specific to each population, the present study was conducted to detect exon 4 mutations and adjacent flanking regions of the PAH gene in northern Iran. Methods: This is a descriptive cross-sectional study, in which 24 unrelated PKU patients in Taleghani Hospital in Gorgan were enrolled for a one-year period. After extraction of genomic DNA from leukocytes, identification of exon 4 mutations and adjacent flanking regions was performed using polymerase chain reaction (PCR) and sequencing techniques. Results: In this study, IVS4+1G>A mutation was detected in one allele (2.08%) among 48 alleles. Moreover, IVS4+47C>T and IVS3-22C>T polymorphisms were observed in 12 alleles (25%) and eight alleles (16.7%), respectively. Conclusion: In the present study, IVS4+1G>A mutation was only found in 2% of chromosomes. Hence, different mutations are responsible for PKU disease in the north of Iran, and further studies are recommended to identify all mutations in the PAH gene in the region.

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Section: Discussionmentioning

confidence: 59%

Detection of IVS4+1G>A mutation in phenylalanine hydroxylase gene in North of Iran using PCR-sequencing

Chelak

Koohpar

2023

J Shahrekord Univ Med Sci

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“…A notable proportion of alleles (Table 2) is associated with patients of Russian, Turkish, and Kazakh origin. This variant represents the majority allele for Russian patients (51.8%), while in the neighboring Ossetian region of Georgia, it occurs at a lower frequency of 3.2% [33]. The variation in frequencies could be explained by the greater connectivity of Ossetia with the European population.…”

Section: Discussionmentioning

confidence: 95%

“…The F331S mutation has been reported in Slovakia in a single case and in a sample of patients from the Karachay-Cherkess Republic [9]. The V177M variant has been described in a compound heterozygous state in patients with PKU from the Galicia region of Spain [32] and from Georgia [33]. In a study of 3362 unrelated subjects in the Turkish population, 20 heterozygous carriers of this variant were found (allele frequency 0.6%) [23].…”

Section: Discussionmentioning

confidence: 98%

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene

Tebieva,

Mishakova,

Gabisova

et al. 2024

IJMS

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This study, conducted in the Republic of North Ossetia-Alania (RNOA), aimed to explore the genetic landscape of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) in the Ossetian population using data from newborn screening (NBS). Through comprehensive molecular genetic analysis of 29 patients with HPA from diverse ethnic backgrounds, two major genetic variants in the PAH gene, P281L and P211T, were identified, constituting 50% of all detected pathogenic alleles in Ossetian patients. Remarkably, these variants exhibited an exceptionally high frequency in the Ossetian population, surpassing global prevalence rates. This study unveiled a notable prevalence of mild forms of HPA (78%), underscoring the importance of genetic counseling for carriers of pathogenic variants in the PAH gene. Moreover, the findings emphasized the necessity for ongoing monitoring of patients with mild forms, as they may lack significant symptoms for diagnosis, potentially impacting offspring. Overall, this research offers valuable insights into the genetic landscape of HPA and PKU in the Ossetian population.

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Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review

et al. 2021

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Molecular-Genetic Study of Phenylketonuria in Patients from Georgia

Cited by 4 publications

References 15 publications

Detection of IVS4+1G>A mutation in phenylalanine hydroxylase gene in North of Iran using PCR-sequencing

Detection of IVS4+1G>A mutation in phenylalanine hydroxylase gene in North of Iran using PCR-sequencing

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review

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