Kałużewski Tadeusz, Pinkier Iwona, Wysocka Urszula, Sałamunia Jordan, Kępczyński Łukasz, Piotrowicz Małgorzata, Kałużewski Bogdan, Gach Agnieszka
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, 93-338, Poland.
R&D Division, Laboratory of Medical Genetics, GENOS Sp. z o.o., Lodz, 91-033, Poland.
Appl Clin Genet. 2024 Dec 21;17:205-214. doi: 10.2147/TACG.S498338. eCollection 2024.
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), 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 gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the 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 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.
雄激素不敏感综合征（AIS）是一种X连锁遗传病，由雄激素受体基因（）突变引起，导致雄激素信号传导受损，致使核型为46,XY的个体出现不同程度的男性化不足。本研究旨在通过下一代测序（NGS）鉴定和表征该基因中的致病变异，以拓展AIS的分子图谱。分子诊断揭示了该基因内八个不同的变异，其中两个此前未曾报道。这些包括以下新变异：c.3G>A和c.1344_1345insTA。本研究拓宽了与AIS相关的已知基因突变谱，并突出了分子诊断在变异准确分类中的关键作用。这些发现将有助于加强对受AIS影响个体的临床管理和遗传咨询。
