{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:39:07Z","timestamp":1786653547760,"version":"build-2736575974"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>\n                    Androgen insensitivity syndrome (AIS; Online Mendelian Inheritance in Man [OMIM; #300068]) is an X-linked recessive disorder caused by pathogenic variants in the androgen receptor (AR) gene located in the Xq11-q13 region. In this retrospective study of 30 patients with AIS, next-generation sequencing identified 24 variants in AR, including 20 missense, 1 nonsense, and 3 splice-site variants. Seven novel variants were detected in 8 patients. Of the 24 variants, 15 were classified as likely pathogenic, 8 as pathogenic, and 1 as of uncertain significance. Variants included 5\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    and 24 familial cases. These\n                    <jats:italic toggle=\"yes\">AR<\/jats:italic>\n                    variants were predominantly located in the functional domains, with the ligand-binding domain (LBD) harboring 10 variants, the DNA-binding domain (DBD) harboring 5 variants, the N-terminal domain (NTD) harboring 2 variants, and the hinge region (HR) harboring 1 variant. The highest variant detection rate occurred in exon 5 (11\/30), followed by exon 3 (9\/30). These findings advance our understanding of genotype including 20 missense, 1 nonsense, and 3 splice-site variants through the identification of 7 novel variants.\n                  <\/jats:p>","DOI":"10.4103\/aja202578","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T14:00:14Z","timestamp":1768917614000},"page":"335-342","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Clinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome"],"prefix":"10.4103","volume":"28","author":[{"given":"Jia-Nan","family":"Li","sequence":"first","affiliation":[{"name":"Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center of Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People\u2019s Hospital, University of Electronic Science and Technology of China, Chengdu 610072, 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