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Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report

North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations causing common inherited disorders. X-linked ichthyosi...

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Autores principales: Vasilyeva, Tatyana A., Marakhonov, Andrey V., Tebieva, Inna S., Kadyshev, Vitaly V., Borovikov, Artem O., Markova, Zhanna G., Chukhrova, Alyona L., Ginter, Evgeny K., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003119/
https://www.ncbi.nlm.nih.gov/pubmed/36901946
http://dx.doi.org/10.3390/ijms24054515
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author Vasilyeva, Tatyana A.
Marakhonov, Andrey V.
Tebieva, Inna S.
Kadyshev, Vitaly V.
Borovikov, Artem O.
Markova, Zhanna G.
Chukhrova, Alyona L.
Ginter, Evgeny K.
Kutsev, Sergey I.
Zinchenko, Rena A.
author_facet Vasilyeva, Tatyana A.
Marakhonov, Andrey V.
Tebieva, Inna S.
Kadyshev, Vitaly V.
Borovikov, Artem O.
Markova, Zhanna G.
Chukhrova, Alyona L.
Ginter, Evgeny K.
Kutsev, Sergey I.
Zinchenko, Rena A.
author_sort Vasilyeva, Tatyana A.
collection PubMed
description North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations causing common inherited disorders. X-linked ichthyosis represents the second most common form of genodermatoses after ichthyosis vulgaris. Eight patients from three unrelated families of different ethnic origin, Kumyk, Turkish Meskhetians, and Ossetian, with X-linked ichthyosis from the North Caucasian Republic of North Ossetia–Alania were examined. NGS technology was implied for searching for disease-causing variants in one of the index patients. Known pathogenic hemizygous deletion in the short arm of chromosome X encompassing the STS gene was defined in the Kumyk family. A further analysis allowed us to establish that likely the same deletion was a cause of ichthyosis in a family belonging to the Turkish Meskhetians ethnic group. In the Ossetian family, a likely pathogenic nucleotide substitution in the STS gene was defined; it segregated with the disease in the family. We molecularly confirmed XLI in eight patients from three examined families. Though in two families, Kumyk and Turkish Meskhetian, we revealed similar hemizygous deletions in the short arm of chromosome X, but their common origin was not likely. Forensic STR markers of the alleles carrying the deletion were defined to be different. However, here, common alleles haplotype is hard to track for a high local recombination rate. We supposed the deletion could arise as a de novo event in a recombination hot spot in the described and in other populations with a recurrent character. Defined here are the different molecular genetic causes of X-linked ichthyosis in families of different ethnic origins sharing the same residence place in the Republic of North Ossetia–Alania which could point to the existing reproductive barriers even inside close neighborhoods.
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spelling pubmed-100031192023-03-11 Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report Vasilyeva, Tatyana A. Marakhonov, Andrey V. Tebieva, Inna S. Kadyshev, Vitaly V. Borovikov, Artem O. Markova, Zhanna G. Chukhrova, Alyona L. Ginter, Evgeny K. Kutsev, Sergey I. Zinchenko, Rena A. Int J Mol Sci Case Report North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations causing common inherited disorders. X-linked ichthyosis represents the second most common form of genodermatoses after ichthyosis vulgaris. Eight patients from three unrelated families of different ethnic origin, Kumyk, Turkish Meskhetians, and Ossetian, with X-linked ichthyosis from the North Caucasian Republic of North Ossetia–Alania were examined. NGS technology was implied for searching for disease-causing variants in one of the index patients. Known pathogenic hemizygous deletion in the short arm of chromosome X encompassing the STS gene was defined in the Kumyk family. A further analysis allowed us to establish that likely the same deletion was a cause of ichthyosis in a family belonging to the Turkish Meskhetians ethnic group. In the Ossetian family, a likely pathogenic nucleotide substitution in the STS gene was defined; it segregated with the disease in the family. We molecularly confirmed XLI in eight patients from three examined families. Though in two families, Kumyk and Turkish Meskhetian, we revealed similar hemizygous deletions in the short arm of chromosome X, but their common origin was not likely. Forensic STR markers of the alleles carrying the deletion were defined to be different. However, here, common alleles haplotype is hard to track for a high local recombination rate. We supposed the deletion could arise as a de novo event in a recombination hot spot in the described and in other populations with a recurrent character. Defined here are the different molecular genetic causes of X-linked ichthyosis in families of different ethnic origins sharing the same residence place in the Republic of North Ossetia–Alania which could point to the existing reproductive barriers even inside close neighborhoods. MDPI 2023-02-24 /pmc/articles/PMC10003119/ /pubmed/36901946 http://dx.doi.org/10.3390/ijms24054515 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Vasilyeva, Tatyana A.
Marakhonov, Andrey V.
Tebieva, Inna S.
Kadyshev, Vitaly V.
Borovikov, Artem O.
Markova, Zhanna G.
Chukhrova, Alyona L.
Ginter, Evgeny K.
Kutsev, Sergey I.
Zinchenko, Rena A.
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
title Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
title_full Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
title_fullStr Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
title_full_unstemmed Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
title_short Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
title_sort genetic heterogeneity of x-linked ichthyosis in the republic of north ossetia–alania, case series report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003119/
https://www.ncbi.nlm.nih.gov/pubmed/36901946
http://dx.doi.org/10.3390/ijms24054515
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