A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype
Background: In this study, we aimed to analyze androgen receptor (<i>AR</i>) gene mutations in five members of a family with complete androgen insensitivity syndrome (CAIS). Methods: Peripheral blood samples were collected from the proband and four relatives (mother, sister, and two aunt...
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2025-05-01
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| author | Inayet Nur Uslu Nuriye Gokce Gulsevinc Aksoy Nihal Inandiklioglu Bilgin Yuksel Munis Dundar Osman Demirhan |
| author_facet | Inayet Nur Uslu Nuriye Gokce Gulsevinc Aksoy Nihal Inandiklioglu Bilgin Yuksel Munis Dundar Osman Demirhan |
| author_sort | Inayet Nur Uslu |
| collection | DOAJ |
| description | Background: In this study, we aimed to analyze androgen receptor (<i>AR</i>) gene mutations in five members of a family with complete androgen insensitivity syndrome (CAIS). Methods: Peripheral blood samples were collected from the proband and four relatives (mother, sister, and two aunts). Cytogenetic imaging and chromosomal analysis were per-formed to elucidate the genetic basis of the condition. Clinical Exome Sequencing (CES) was conducted to identify candidate variants, which were subsequently validated using Sanger sequencing. Evolutionary conservation analysis was performed for the identified <i>AR</i> gene mutation. Results: Our analyses revealed that the proband, sister, Aunt I, and Aunt II exhibited a 46,XY karyotype and carried the <i>SRY</i> gene. The mother, however, had a 46,XX karyotype, and did not carry the SRY gene, confirming X-linked recessive inheritance of the condition. CES results demonstrated that the proband, sister, Aunt I, and Aunt II harbored a hemizygous c.2246C>T (p.Ala749Val) mutation, while the mother carried this mutation in a heterozygous state. The presence of this mutation was confirmed by Sanger sequencing. Evolutionary conservation analysis indicated that the mutation is conserved among vertebrates. Conclusion: in conclusion, we identified a novel missense mutation (c.2246C>T) in the <i>AR</i> gene in five members of a CAIS-affected family, which has not been previously reported in the literature. |
| format | Article |
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| issn | 1467-3037 1467-3045 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | MDPI AG |
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| series | Current Issues in Molecular Biology |
| spelling | doaj-art-2f197c834786490f9595fbe7ed85d35e2025-08-20T02:33:44ZengMDPI AGCurrent Issues in Molecular Biology1467-30371467-30452025-05-0147534910.3390/cimb47050349A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY KaryotypeInayet Nur Uslu0Nuriye Gokce1Gulsevinc Aksoy2Nihal Inandiklioglu3Bilgin Yuksel4Munis Dundar5Osman Demirhan6Department of Medical Biology, Faculty of Medicine, Çukurova University, 01330 Adana, TürkiyeDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, 38280 Kayseri, TürkiyeDepartment of Medical Biology, Faculty of Medicine, Çukurova University, 01330 Adana, TürkiyeDepartment of Medical Biology, Faculty of Medicine, Yozgat Bozok University, 66100 Yozgat, TürkiyeDepartment of Pediatrics, Division of Pediatric Endocrinology, Faculty of Medicine, Çukurova University, 01330 Adana, TürkiyeDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, 38280 Kayseri, TürkiyeDepartment of Medical Biology, Faculty of Medicine, Çukurova University, 01330 Adana, TürkiyeBackground: In this study, we aimed to analyze androgen receptor (<i>AR</i>) gene mutations in five members of a family with complete androgen insensitivity syndrome (CAIS). Methods: Peripheral blood samples were collected from the proband and four relatives (mother, sister, and two aunts). Cytogenetic imaging and chromosomal analysis were per-formed to elucidate the genetic basis of the condition. Clinical Exome Sequencing (CES) was conducted to identify candidate variants, which were subsequently validated using Sanger sequencing. Evolutionary conservation analysis was performed for the identified <i>AR</i> gene mutation. Results: Our analyses revealed that the proband, sister, Aunt I, and Aunt II exhibited a 46,XY karyotype and carried the <i>SRY</i> gene. The mother, however, had a 46,XX karyotype, and did not carry the SRY gene, confirming X-linked recessive inheritance of the condition. CES results demonstrated that the proband, sister, Aunt I, and Aunt II harbored a hemizygous c.2246C>T (p.Ala749Val) mutation, while the mother carried this mutation in a heterozygous state. The presence of this mutation was confirmed by Sanger sequencing. Evolutionary conservation analysis indicated that the mutation is conserved among vertebrates. Conclusion: in conclusion, we identified a novel missense mutation (c.2246C>T) in the <i>AR</i> gene in five members of a CAIS-affected family, which has not been previously reported in the literature.https://www.mdpi.com/1467-3045/47/5/349androgen insensitivity syndromeandrogen receptor geneCAISnovel mutation |
| spellingShingle | Inayet Nur Uslu Nuriye Gokce Gulsevinc Aksoy Nihal Inandiklioglu Bilgin Yuksel Munis Dundar Osman Demirhan A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype Current Issues in Molecular Biology androgen insensitivity syndrome androgen receptor gene CAIS novel mutation |
| title | A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype |
| title_full | A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype |
| title_fullStr | A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype |
| title_full_unstemmed | A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype |
| title_short | A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype |
| title_sort | novel mutation in the androgen receptor gene of female patients with 46 xy karyotype |
| topic | androgen insensitivity syndrome androgen receptor gene CAIS novel mutation |
| url | https://www.mdpi.com/1467-3045/47/5/349 |
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