{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T16:57:07Z","timestamp":1792688227597,"version":"4.5.0"},"reference-count":66,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,10]]},"abstract":"Objective<\/jats:title>To analyzeANOS1<\/jats:italic>gene mutations in a large Chinese Kallmann syndrome (KS) cohort and to characterize the clinical presentation of the disease in patients withANOS1<\/jats:italic>mutations.<\/jats:p><\/jats:sec>Patients and methods<\/jats:title>Chinese patients with KS, including 187 sporadic and 23 pedigree cases were recruited. Patients\u2019ANOS1<\/jats:italic>gene sequences were analyzed by direct sequencing of PCR-amplified products.In silico<\/jats:italic>analysis was used to assess functional relevance of newly identified missense mutations. Patients\u2019 clinical characteristics were analyzed retrospectively.<\/jats:p><\/jats:sec>Result(s)<\/jats:title>Fifteen nonsynonymous rareANOS1<\/jats:italic>variants were found in 13 out of 187 sporadic and 8 out of 23 familial IHH probands. Seven novel (C86F, C90Y, C151W, Y379X, c.1062\u2009+\u20091G\u2009>\u2009A, Y579L fs 591X, R597X) and eight recurrentANOS1<\/jats:italic>mutations (S38X, R257X, R262X, R423X, R424X, V560I, c.1843-1G\u2009>\u2009A, p.R631X) were identified. All the novel mutations were predicted to be pathogenic. The prevalence of cryptorchidism was high (38.1%) and occurred in patients with different kind ofANOS1<\/jats:italic>mutations, while the patients with the same mutation did not present with cryptorchidism uniformly.<\/jats:p><\/jats:sec>Conclusion(s)<\/jats:title>The prevalence ofANOS1<\/jats:italic>gene mutations is low in sporadic KS patients, but is much higher in familial KS patients. In the present study, we identify seven novelANOS1<\/jats:italic>mutations, including two mutations in the CR domain, which are probably pathogenic. These mutations expand theANOS1<\/jats:italic>mutation spectrum and provide a foundation for prenatal diagnosis and genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-17-0335","type":"journal-article","created":{"date-parts":[[2017,8,6]],"date-time":"2017-08-06T00:10:18Z","timestamp":1501978218000},"page":"389-398","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":13,"title":["Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations"],"prefix":"10.1093","volume":"177","author":[{"given":"Min","family":"Nie","sequence":"first","affiliation":[{"name":"1Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key laboratory of Endocrine, Ministry of Health, Beijing, 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laboratory of Endocrine, Ministry of Health, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Wang","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key laboratory of Endocrine, Ministry of Health, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuyu","family":"Xiong","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key laboratory of Endocrine, Ministry of Health, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junjie","family":"Zheng","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical 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