{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:09:58Z","timestamp":1790798998320,"version":"4.1.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,7,1]]},"abstract":"<jats:p>Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip\/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a <jats:italic>de novo<\/jats:italic> 2.38 Mb heterozygous deletion in 9q31.2. The deletion breakpoints (determined with whole-genome linked-read sequencing) were in the <jats:italic>FKTN<\/jats:italic> gene (9:108,331,353) and in a non-coding area (9:110,707,332) (hg19). The deletion encompassed six protein-coding genes (<jats:italic>FKTN<\/jats:italic>, <jats:italic>ZNF462<\/jats:italic>, <jats:italic>TAL2<\/jats:italic>, <jats:italic>TMEM38B<\/jats:italic>, <jats:italic>RAD23B<\/jats:italic>, and <jats:italic>KLF4<\/jats:italic>). <jats:italic>ZNF462<\/jats:italic> haploinsufficiency was consistent with the patient\u2019s Weiss\u2013Kruszka syndrome (craniofacial phenotype, developmental delay, and sensorineural hearing loss), but did not explain his KS. In further analyses, he did not carry rare sequence variants in 32 known KS genes in whole-exome sequencing and displayed no aberrant splicing of 15 KS genes that were expressed in peripheral blood leukocyte transcriptome. The deletion was 1.8 Mb upstream of a KS candidate gene locus (<jats:italic>PALM2AKAP2<\/jats:italic>) but did not suppress its expression. In conclusion, this is the first report of a patient with Weiss\u2013Kruszka syndrome and KS. We suggest that patients carrying a microdeletion in 9q31.2 should be evaluated for the presence of KS and KS-related features.<\/jats:p>","DOI":"10.1530\/eje-20-1387","type":"journal-article","created":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T16:48:18Z","timestamp":1619628498000},"page":"57-66","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":14,"title":["Kallmann syndrome in a patient with Weiss\u2013Kruszka syndrome and a de novo deletion in 9q31.2"],"prefix":"10.1093","volume":"185","author":[{"given":"Anna-Pauliina","family":"Iivonen","sequence":"first","affiliation":[{"name":"1Department of Physiology, Stem Cells and Metabolism Research Program, Faculty of Medicine, Research Programs Unit, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juho","family":"K\u00e4rkinen","sequence":"additional","affiliation":[{"name":"2Pediatric Research Center, New Children\u2019s Hospital, Helsinki University Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkatram","family":"Yellapragada","sequence":"additional","affiliation":[{"name":"1Department of Physiology, Stem Cells and Metabolism Research Program, Faculty of Medicine, Research Programs Unit, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virpi","family":"Sidoroff","sequence":"additional","affiliation":[{"name":"3North Karelia Central Hospital, Joensuu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrikki","family":"Almusa","sequence":"additional","affiliation":[{"name":"4Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsi","family":"Vaaralahti","sequence":"additional","affiliation":[{"name":"1Department of Physiology, Stem Cells and Metabolism Research Program, Faculty of Medicine, Research Programs Unit, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taneli","family":"Raivio","sequence":"additional","affiliation":[{"name":"1Department of Physiology, Stem Cells and Metabolism Research Program, Faculty of Medicine, Research Programs Unit, University of Helsinki, Helsinki, Finland"},{"name":"2Pediatric Research Center, New Children\u2019s Hospital, Helsinki University Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/185\/1\/EJE-20-1387.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/185\/1\/EJE-20-1387.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:16:05Z","timestamp":1676391365000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/185\/1\/57\/6654336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,1]]},"references-count":0,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.1530\/eje-20-1387","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,1]]}}}