{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:38Z","timestamp":1791327638847,"version":"4.3.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,1,2]],"date-time":"2013-01-02T00:00:00Z","timestamp":1357084800000},"content-version":"vor","delay-in-days":1461,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Andrology"],"published-print":{"date-parts":[[2009,1,2]]},"abstract":"<jats:p><jats:bold>ABSTRACT: <\/jats:bold> Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. To date, 4 different genes have been identified as responsible for the presence of KS; however, in many cases no mutations have been found in any of these genes. Herein, we report the molecular findings regarding the analysis of fibroblast growth factor receptor 1 (<jats:italic>FGFR1<\/jats:italic>), prokineticin receptor 2 (<jats:italic>PROKR2<\/jats:italic>), and prokineticin (<jats:italic>PROK2<\/jats:italic>) in patients with KS. Twenty\u2010four patients with KS were studied in whom mutations in <jats:italic>KAL1<\/jats:italic> had been investigated previously. Polymerase chain reaction products from <jats:italic>FGFR1<\/jats:italic>, <jats:italic>PROKR2<\/jats:italic>, and <jats:italic>PROK2<\/jats:italic> were sequenced and mutations were sought in the open reading frame of the 3 genes. Two patients presented a heterozygous T\u2010to\u2010G transversion in exon 2 (c.518T&gt;G) of the <jats:italic>PROKR2<\/jats:italic>, which results in a leucine\u2010to\u2010arginine substitution at codon 173. Our results strengthen the hypothesis of possible digenic inheritance in some patients with KS. Likewise, our data extend previous reports demonstrating that <jats:italic>PROKR2<\/jats:italic> plays a role in the etiology of this syndrome.<\/jats:p>","DOI":"10.2164\/jandrol.108.005314","type":"journal-article","created":{"date-parts":[[2008,12,3]],"date-time":"2008-12-03T02:49:17Z","timestamp":1228272557000},"page":"41-45","source":"Crossref","is-referenced-by-count":46,"title":["Genetic Analysis in Patients With Kallmann Syndrome: Coexistence of Mutations in Prokineticin Receptor 2 and <i>KAL1<\/i>"],"prefix":"10.1002","volume":"30","author":[{"given":"P.","family":"Canto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Mungu\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"S\u00f6derlund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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