Publication in The American Journal of Human Genetics

The American Journal of Human Genetics (Q1 Web of Science, Impact Factor 9.89) published an article by the FSBI RCMG DNA-Diagnostics Laboratory (headed by A.V. Polyakov, Doctor of biological sci.) co-authored with leading experts in phenylketonuria studies.

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana E. Chiesa, John Christodoulou, Maja Dordevic, Lourdes R. Desviat, Aviva Eliyahu, Roeland A.F. Evers, Lena Fajkusova, Franc¸ois Feillet, Pedro E. Bonfim-Freitas, Maria Gizewska, Polina Gundorova, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter-Konecki, Ania C. Muntau, Fares Namour, Mariusz Oltarzewski, Andrea Paras, Belen Perez, Emil Polak, Alexander V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl-Burgi, Norma Specola, Maja Stojiljkovic, Nan Shen, Luiz C. Santana-da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thony, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade, and Nenad Blau

The massive (more than 16 thousand patients) epidemiology of phenylketonuria study included data from the DNA-Diagnostics Laboratory collected over 20 years. The article presents a detailed statistical analysis, data on frequency of disease, prevalence of the PAH gene variants, discusses mechanisms of distribution and accumulation of mutations in different populations of 51 countries in 17 regions of the world.

Hillert et al., The Genetic Landscape and Epidemiology of Phenylketonuria, The American Journal of Human Genetics (2020), 
https://doi.org/10.1016/j.ajhg.2020.06.006