{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T13:42:06Z","timestamp":1789393326286,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kallmann syndrome (KS) is a rare genetic disease characterized by pubertal failure and olfactory defects. Although many genes associated with KS have been reported, most are rare. Recently, heterozygous inactivating mutations in the neuron\u2010derived neurotrophic factor gene (<jats:italic>NDNF<\/jats:italic>) were reported to cause KS. Here, we present a 14\u2010year\u2010old Kurdish boy with KS who has a novel homozygous nonsense c.1251C&gt;A (p.Tyr417Ter) variant in <jats:italic>NDNF<\/jats:italic>. The variant was not observed in reference population databases and was predicted to be deleterious. Segregation analysis performed with Sanger sequencing indicated the autosomal recessive inheritance of the clinical phenotype. His heterozygous parents have experienced timely pubertal development and normal reproductive features. This study reported the first homozygous truncating <jats:italic>NDNF<\/jats:italic> variant, enabling the direct observation of the clinical consequences of predictively absent NDNF function. These results support the contention that the inactivating mutations in <jats:italic>NDNF<\/jats:italic> cause KS, and provide additional evidence for the complex inheritance of KS.<\/jats:p>","DOI":"10.1002\/ajmg.a.63066","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T18:53:30Z","timestamp":1669920810000},"page":"831-834","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel homozygous nonsense <scp><i>NDNF<\/i><\/scp> variant in Kallmann syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6176-8986","authenticated-orcid":false,"given":"Leman Damla","family":"Kotan","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Faculty of Medicine Cukurova University  Adana 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Kemal","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Harvard Medical School Massachusetts General Hospital for Children  Boston Massachusetts 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