Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing
Tadeusz Kałużewski,1,2 Iwona Pinkier,1 Urszula Wysocka,1 Jordan Sałamunia,2 Łukasz Kępczyński,1,2 Małgorzata Piotrowicz,1 Bogdan Kałużewski,2 Agnieszka Gach1 1Department of Genetics, Polish Mother’s Memoria...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Dove Medical Press
2024-12-01
|
| Series: | The Application of Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.dovepress.com/expanding-the-molecular-landscape-of-androgen-insensitivity-syndrome-t-peer-reviewed-fulltext-article-TACG |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850244477003759616 |
|---|---|
| author | Kałużewski T Pinkier I Wysocka U Sałamunia J Kępczyński Ł Piotrowicz M Kałużewski B Gach A |
| author_facet | Kałużewski T Pinkier I Wysocka U Sałamunia J Kępczyński Ł Piotrowicz M Kałużewski B Gach A |
| author_sort | Kałużewski T |
| collection | DOAJ |
| description | Tadeusz Kałużewski,1,2 Iwona Pinkier,1 Urszula Wysocka,1 Jordan Sałamunia,2 Łukasz Kępczyński,1,2 Małgorzata Piotrowicz,1 Bogdan Kałużewski,2 Agnieszka Gach1 1Department of Genetics, Polish Mother’s Memorial Hospital Research Institute, Lodz, 93-338, Poland; 2R&D Division, Laboratory of Medical Genetics, GENOS Sp. z o.o., Lodz, 91-033, PolandCorrespondence: Tadeusz Kałużewski, Email tadeusz.kaluzewski@iczmp.edu.plAbstract: Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (AR), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the AR gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the AR gene, two of which had not been previously described. These include the following novel variants: c.3G>A, and c.1344_1345insTA. This study broadens the spectrum of known AR gene mutations associated with AIS and highlights the critical role of molecular diagnostics in the accurate classification of variants. These findings will aid in enhancing the clinical management and genetic counseling of individuals affected by AIS.Keywords: androgen insensitivity syndrome, AIS, androgen receptor gene, AR gene, next-generation sequencing, NGS, disorders of sex development, complete androgen insensitivity syndrome, CAIS |
| format | Article |
| id | doaj-art-7ae8be69f59b4d09aa8a467776a42a7e |
| institution | OA Journals |
| issn | 1178-704X |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj-art-7ae8be69f59b4d09aa8a467776a42a7e2025-08-20T01:59:43ZengDove Medical PressThe Application of Clinical Genetics1178-704X2024-12-01Volume 1720521498649Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation SequencingKałużewski TPinkier IWysocka USałamunia JKępczyński ŁPiotrowicz MKałużewski BGach ATadeusz Kałużewski,1,2 Iwona Pinkier,1 Urszula Wysocka,1 Jordan Sałamunia,2 Łukasz Kępczyński,1,2 Małgorzata Piotrowicz,1 Bogdan Kałużewski,2 Agnieszka Gach1 1Department of Genetics, Polish Mother’s Memorial Hospital Research Institute, Lodz, 93-338, Poland; 2R&D Division, Laboratory of Medical Genetics, GENOS Sp. z o.o., Lodz, 91-033, PolandCorrespondence: Tadeusz Kałużewski, Email tadeusz.kaluzewski@iczmp.edu.plAbstract: Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (AR), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the AR gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the AR gene, two of which had not been previously described. These include the following novel variants: c.3G>A, and c.1344_1345insTA. This study broadens the spectrum of known AR gene mutations associated with AIS and highlights the critical role of molecular diagnostics in the accurate classification of variants. These findings will aid in enhancing the clinical management and genetic counseling of individuals affected by AIS.Keywords: androgen insensitivity syndrome, AIS, androgen receptor gene, AR gene, next-generation sequencing, NGS, disorders of sex development, complete androgen insensitivity syndrome, CAIShttps://www.dovepress.com/expanding-the-molecular-landscape-of-androgen-insensitivity-syndrome-t-peer-reviewed-fulltext-article-TACGandrogen insensitivity syndromeaisandrogen receptor genear genenext-generation sequencingngsdisorders of sex developmentcomplete androgen insensitivity syndromecais. |
| spellingShingle | Kałużewski T Pinkier I Wysocka U Sałamunia J Kępczyński Ł Piotrowicz M Kałużewski B Gach A Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing The Application of Clinical Genetics androgen insensitivity syndrome ais androgen receptor gene ar gene next-generation sequencing ngs disorders of sex development complete androgen insensitivity syndrome cais. |
| title | Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing |
| title_full | Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing |
| title_fullStr | Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing |
| title_full_unstemmed | Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing |
| title_short | Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing |
| title_sort | expanding the molecular landscape of androgen insensitivity syndrome through next generation sequencing |
| topic | androgen insensitivity syndrome ais androgen receptor gene ar gene next-generation sequencing ngs disorders of sex development complete androgen insensitivity syndrome cais. |
| url | https://www.dovepress.com/expanding-the-molecular-landscape-of-androgen-insensitivity-syndrome-t-peer-reviewed-fulltext-article-TACG |
| work_keys_str_mv | AT kałuzewskit expandingthemolecularlandscapeofandrogeninsensitivitysyndromethroughnextgenerationsequencing AT pinkieri expandingthemolecularlandscapeofandrogeninsensitivitysyndromethroughnextgenerationsequencing AT wysockau expandingthemolecularlandscapeofandrogeninsensitivitysyndromethroughnextgenerationsequencing AT sałamuniaj expandingthemolecularlandscapeofandrogeninsensitivitysyndromethroughnextgenerationsequencing AT kepczynskił expandingthemolecularlandscapeofandrogeninsensitivitysyndromethroughnextgenerationsequencing AT piotrowiczm expandingthemolecularlandscapeofandrogeninsensitivitysyndromethroughnextgenerationsequencing AT kałuzewskib expandingthemolecularlandscapeofandrogeninsensitivitysyndromethroughnextgenerationsequencing AT gacha expandingthemolecularlandscapeofandrogeninsensitivitysyndromethroughnextgenerationsequencing |