Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
| Title: | Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients. |
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| Authors: | Shchagina O; Research Centre for Medical Genetics, Moscow 115522, Russia.; Stepanova A; Research Centre for Medical Genetics, Moscow 115522, Russia.; Mishakova P; Research Centre for Medical Genetics, Moscow 115522, Russia.; Kadyshev V; Research Centre for Medical Genetics, Moscow 115522, Russia.; Demina N; Research Centre for Medical Genetics, Moscow 115522, Russia.; Bessonova L; Research Centre for Medical Genetics, Moscow 115522, Russia.; Ionova S; Research Centre for Medical Genetics, Moscow 115522, Russia.; Guseva D; Research Centre for Medical Genetics, Moscow 115522, Russia.; Marakhonov A; Research Centre for Medical Genetics, Moscow 115522, Russia.; Zinchenko R; Research Centre for Medical Genetics, Moscow 115522, Russia.; Kutsev S; Research Centre for Medical Genetics, Moscow 115522, Russia.; Polyakov A; Research Centre for Medical Genetics, Moscow 115522, Russia. |
| Source: | Biomedicines [Biomedicines] 2024 Oct 01; Vol. 12 (10). Date of Electronic Publication: 2024 Oct 01. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Original Publication: Basel, Switzerland : MDPI AG, [2013]- |
| Abstract: | Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40-50% of all cases of the disease in European populations. Common hypomorphic variants in the TYR gene could lead to a mild form of albinism in a compound heterozygous state with a pathogenic variant. Methods: we examined by allele specific MLPA a cohort consisting of 118 unrelated patients with albinism and 10 parents of these patients. The control cohort consisted of 200 unexamined Russian residents. Results: the patients with albinism were divided into three groups: without pathogenic variants in the TYR gene-70 patients, with one pathogenic variant in the TYR gene-20 patients, and with two pathogenic variants in the TYR gene-28 patients. Among the 20 patients with a single heterozygous variant in the TYR gene, 15 patients had the c.575C>A p.(Ser192Tyr) variant, and 15 had the c.1205G>A p.(Arg402Gln) variant. Both the c.575C>A p.(Ser192Tyr) and c.1205G>A p.(Arg402Gln) variants were identified in 12 patients. In addition to the aforementioned variants, an intronic variant c.1185-6208A>G (rs147546939) was identified in seven patients. Conclusions: the frequencies and the number of alleles c.575A, c.1205A, and c.1185-6208G in different groups of patients and the control group were compared. In this study, we demonstrate that the complex alleles [c.575C>A p.(Ser192Tyr); c.1205G>A p.(Arg402Gln)] and [c.575C>A p.(Ser192Tyr); c.1185-6208A>G; c.1205G>A p.(Arg402Gln)] are associated with oculocutaneous albinism, which is consistent with findings from other researchers. |
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| Grant Information: | the Federal Scientific-technical programme for genetic technologies development for 2019-2030, agreement № 075-15-2021-1061, RF 193021X0029 This work was supported by The Ministry of Science and Higher Education of the Russian Federation |
| Contributed Indexing: | Keywords: TYR; hypomorphic variants; oculocutaneous albinism |
| Entry Date(s): | Date Created: 20241026 Latest Revision: 20241029 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC11505592 |
| DOI: | 10.3390/biomedicines12102234 |
| PMID: | 39457547 |
| Database: | MEDLINE |
Journal Article