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Article

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

by
Inna S. Tebieva
1,2,
Polina V. Mishakova
3,
Yulia V. Gabisova
2,
Alana V. Khokhova
2,
Tamara G. Kaloeva
1,
Andrey V. Marakhonov
3,
Olga A. Shchagina
3,
Alexander V. Polyakov
3,
Evgeny K. Ginter
3,
Sergey I. Kutsev
3 and
Rena A. Zinchenko
3,*
1
North-Ossetian State Medical Academy, 362003 Vladikavkaz, Russia
2
Republican Children’s Clinical Hospital, 362003 Vladikavkaz, Russia
3
Research Centre for Medical Genetics, 115522 Moscow, Russia
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2024, 25(9), 4598; https://doi.org/10.3390/ijms25094598
Submission received: 3 March 2024 / Revised: 30 March 2024 / Accepted: 5 April 2024 / Published: 23 April 2024
(This article belongs to the Special Issue Advances in Human Hereditary Diseases: Genetics and Genomics Research)
Review Reports Versions Notes

Abstract

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.
Keywords: hyperphenylalaninemia; phenylketonuria; PAH gene; Republic of North Ossetia-Alania; Ossetian population; frequent mutations hyperphenylalaninemia; phenylketonuria; PAH gene; Republic of North Ossetia-Alania; Ossetian population; frequent mutations

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MDPI and ACS Style

Tebieva, I.S.; Mishakova, P.V.; Gabisova, Y.V.; Khokhova, A.V.; Kaloeva, T.G.; Marakhonov, A.V.; Shchagina, O.A.; Polyakov, A.V.; Ginter, E.K.; Kutsev, S.I.; et al. Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. Int. J. Mol. Sci. 2024, 25, 4598. https://doi.org/10.3390/ijms25094598

AMA Style

Tebieva IS, Mishakova PV, Gabisova YV, Khokhova AV, Kaloeva TG, Marakhonov AV, Shchagina OA, Polyakov AV, Ginter EK, Kutsev SI, et al. Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International Journal of Molecular Sciences. 2024; 25(9):4598. https://doi.org/10.3390/ijms25094598

Chicago/Turabian Style

Tebieva, Inna S., Polina V. Mishakova, Yulia V. Gabisova, Alana V. Khokhova, Tamara G. Kaloeva, Andrey V. Marakhonov, Olga A. Shchagina, Alexander V. Polyakov, Evgeny K. Ginter, Sergey I. Kutsev, and et al. 2024. "Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene" International Journal of Molecular Sciences 25, no. 9: 4598. https://doi.org/10.3390/ijms25094598

APA Style

Tebieva, I. S., Mishakova, P. V., Gabisova, Y. V., Khokhova, A. V., Kaloeva, T. G., Marakhonov, A. V., Shchagina, O. A., Polyakov, A. V., Ginter, E. K., Kutsev, S. I., & Zinchenko, R. A. (2024). Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International Journal of Molecular Sciences, 25(9), 4598. https://doi.org/10.3390/ijms25094598

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