ArticlePloS one2018
Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by anInternational journal of molecular sciences · 2026Article
- Carrier frequency of autosomal recessive monogenic disorders in the peruvian population.Frontiers in genetics · 2026Article
- [Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in theInternational journal of molecular sciences · 2024Article
- Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.International journal of preventive medicine · 2024Article
- Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy.International journal of molecular sciences · 2023Article
- The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.Human genomics · 2023Article
- Genetic etiology of hearing loss in Russia.Human genetics · 2022Review
- Phenylketonuria.Nature reviews. Disease primers · 2021Review
- Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.Frontiers in genetics · 2021Article
- Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.JIMD reports · 2020Article
- Comparison of phenylalanine tolerance in singleton and twin pregnancies in patients with phenylketonuria.The Journal of international medical research · 2020Article
- The Genetic Landscape and Epidemiology of Phenylketonuria.American journal of human genetics · 2020Article
- Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.International journal of molecular sciences · 2020Article
- Article
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2019Article
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6 authors.
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Abstract
Phenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies and the incidence of the disease itself varies from country to country. In the Caucasus region of Russia, some ethnoses are geographically and culturally isolated from each other. The tradition of monoethnic marriages may cause decreased genetic variability in those populations. In the Karachay-Cherkess Republic (Russia), the highest incidence of phenylketonuria in the world has been detected (1:850 newborns) in the region and 1:332 among the titular nation Karachays. Here, we showed that this phenomenon is due to the widespread prevalence of the p.Arg261* variant. Its allele frequency among Karachay patients with PKU was 68.4% and the carrier frequency in Karachays was 1:16 healthy individuals. PAH haplotype analysis showed a unique common origin. The founder haplotype and mutation "age" were estimated by analyzing the linkage disequilibrium between p.Arg261* and extragenic short tandem repeat loci. The p.Arg261* variant occurred in the Karachays population 10.2 ± 2.7 generations ago (275 ± 73 years) and its spread occurred in parallel with the growth of the population.
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