{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:38:16Z","timestamp":1791873496491,"version":"4.3.4"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,10,14]],"date-time":"2014-10-14T00:00:00Z","timestamp":1413244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001732","name":"Danmarks Grundforskningsfond","doi-asserted-by":"publisher","award":["DNRF48"],"award-info":[{"award-number":["DNRF48"]}],"id":[{"id":"10.13039\/501100001732","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003554","name":"Lundbeckfonden","doi-asserted-by":"publisher","award":["R32-A2947"],"award-info":[{"award-number":["R32-A2947"]}],"id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004366","name":"Chevron","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004366","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013228","name":"Faroese Research Council","doi-asserted-by":"crossref","award":["0313"],"award-info":[{"award-number":["0313"]}],"id":[{"id":"10.13039\/501100013228","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,9]]},"abstract":"\n Isolated congenital anosmia (\n ICA<\/jats:styled-content>\n ) is a rare disorder, where otherwise healthy individuals present with an inability to smell since birth. A list of studies have described the genes involved in syndromic anosmia; however, the genetics of\n ICA<\/jats:styled-content>\n is still in its infancy. Studies in mice show that the cyclic nucleotide\u2010gated channel subunit\n \n CNGA2<\/jats:styled-content>\n <\/jats:italic>\n , expressed in the olfactory epithelium has a crucial role in olfactory signal transduction. We have identified a novel X\u2010linked stop mutation in\n \n CNGA2<\/jats:styled-content>\n <\/jats:italic>\n (c.\n 634C<\/jats:styled-content>\n >T, p.\n R212<\/jats:styled-content>\n *) in two brothers with\n ICA<\/jats:styled-content>\n using exome sequencing. No additional mutations in\n \n CNGA2<\/jats:styled-content>\n <\/jats:italic>\n were identified in a cohort of 31 non\u2010related\n ICA<\/jats:styled-content>\n individuals. Magnetic resonance brain imaging revealed diminished olfactory bulbs and flattened olfactory sulci. This is the first report of a mutation in the cyclic nucleotide\u2010gated gene\n \n CNGA2<\/jats:styled-content>\n <\/jats:italic>\n and supports the critical role of this gene in human olfaction.\n <\/jats:p>","DOI":"10.1111\/cge.12491","type":"journal-article","created":{"date-parts":[[2014,8,25]],"date-time":"2014-08-25T06:51:10Z","timestamp":1408949470000},"page":"293-296","source":"Crossref","is-referenced-by-count":31,"title":["The first mutation in\n \n CNGA2<\/scp>\n <\/i>\n in two brothers with anosmia"],"prefix":"10.1111","volume":"88","author":[{"given":"H.G.","family":"Karstensen","sequence":"first","affiliation":[{"name":"Willhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, The Faculty of Health Sciences The University of Copenhagen DK\u20102200 Copenhagen N Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Mang","sequence":"additional","affiliation":[{"name":"Willhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, The Faculty of Health Sciences The University of Copenhagen DK\u20102200 Copenhagen N Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Fark","sequence":"additional","affiliation":[{"name":"Interdisciplinary Center for Smell & Taste, Department of Otorhinolaryngology Technical University of Dresden Medical School 01307 Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Hummel","sequence":"additional","affiliation":[{"name":"Interdisciplinary Center for Smell & Taste, Department of Otorhinolaryngology Technical University of Dresden Medical School 01307 Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Tommerup","sequence":"additional","affiliation":[{"name":"Willhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, The Faculty of Health Sciences The University of Copenhagen DK\u20102200 Copenhagen N Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,10,14]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01776.x"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/chemse\/bjl032"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2632"},{"key":"e_1_2_3_5_1","first-page":"157","article-title":"MR evaluation in patients with isolated anosmia since birth or early childhood","volume":"23","author":"Abolmaali ND","year":"2002","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389801300404"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00020840-200302000-00012"},{"key":"e_1_2_3_8_1","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1111\/j.1742-1241.2001.tb11077.x","article-title":"Congenital anosmia","volume":"55","author":"Ho TP","year":"2001","journal-title":"Int J Clin Pract"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30025"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-5223.1969.tb01853.x"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.015313"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09975"},{"key":"e_1_2_3_13_1","first-page":"249","article-title":"Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory","volume":"22","author":"Mitchell AL","year":"2011","journal-title":"Trends Endocrin Met"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-12-0578"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22212"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80435-3"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)00060-X"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80200-7"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-006-0173-0"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2008.05.004"},{"key":"e_1_2_3_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq330"},{"key":"e_1_2_3_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.005"},{"key":"e_1_2_3_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(04)00253-3"},{"key":"e_1_2_3_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1266"},{"key":"e_1_2_3_27_1","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00140.2004"},{"key":"e_1_2_3_28_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00008.2002"},{"key":"e_1_2_3_29_1","doi-asserted-by":"crossref","first-page":"1993","DOI":"10.1523\/JNEUROSCI.17-06-01993.1997","article-title":"Functional expression of the heteromeric \"olfactory\" cyclic nucleotide\u2010gated channel in the hippocampus: a potential effector of synaptic plasticity in brain neurons","volume":"17","author":"Bradley J","year":"1997","journal-title":"J Neurosci"},{"key":"e_1_2_3_30_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.19.10440"},{"key":"e_1_2_3_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-003-0596-2"},{"key":"e_1_2_3_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81139-3"},{"key":"e_1_2_3_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81140-X"},{"key":"e_1_2_3_34_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.19-21-09313.1999"},{"key":"e_1_2_3_35_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.166.2.8553963"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12491","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12491","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T07:57:55Z","timestamp":1696319875000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12491"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,14]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1111\/cge.12491"],"URL":"https:\/\/doi.org\/10.1111\/cge.12491","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,14]]}}}