{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T15:23:51Z","timestamp":1777562631853,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"2_suppl","license":[{"start":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T00:00:00Z","timestamp":1659657600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T00:00:00Z","timestamp":1659657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ear Nose Throat J"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>Isolated congenital anosmia (ICA) is a rare entity worldwide with poorly understood genetic variation. The diagnosis of ICA is made by exclusion of acquired causes of anosmia. Additionally, magnetic resonance imaging in ICA is essential for diagnosis, as it shows reduced or absent development of olfactory bulbs and shallow olfactory sulci. Here, we present the case of a 21-year-old man who presented to our clinic with complete anosmia since birth. The patient's history was negative for acquired causes of anosmia, and the physical examinations of the ears, nose, throat, head, and neck were all not remarkable. Smell testing revealed complete anosmia. The CT imaging was unremarkable; however, magnetic resonance imaging of the anterior brain and olfactory region showed bilaterally absent olfactory bulbs and olfactory tracts, with a shallow olfactory groove. The patient was then subjected to whole exome sequencing. Bioinformatics analysis was performed on the 37 genes associated with olfactory dysfunction, in which a missense variant was identified in the HS6ST1(NM_004807.3) gene was identified, which insilico tools predicted to be likely pathogenic. The results of this patient\u2019s genetic analysis add to the possible genetic culprits reported in ICA cases. Additional genetic analyses are required to validate mutations and understand the heterogeneity of disease representation.<\/jats:p>","DOI":"10.1177\/01455613221111496","type":"journal-article","created":{"date-parts":[[2022,8,5]],"date-time":"2022-08-05T18:27:40Z","timestamp":1659724060000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Isolated Congenital Anosmia: Case Report and Literature Review"],"prefix":"10.1177","volume":"104","author":[{"given":"Naif H.","family":"Alotaibi","sequence":"first","affiliation":[{"name":"King Faisal Specialist Hospital and Research Center (KFSH&RC)"},{"name":"Alfaisal University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May","family":"Alrashed","sequence":"additional","affiliation":[{"name":"King Saud University"},{"name":"King Saud University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4411-554X","authenticated-orcid":false,"given":"Mohammed K.","family":"Drad","sequence":"additional","affiliation":[{"name":"Alfaisal University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leen","family":"Abu-Safieh","sequence":"additional","affiliation":[{"name":"King Fahad Medical City"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulaziz A.","family":"Almobarak","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital and Research Center (KFSH&RC)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Batoul","family":"Baz","sequence":"additional","affiliation":[{"name":"King AbdulAziz City for Science and Technology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raed A.","family":"Farzan","sequence":"additional","affiliation":[{"name":"king Saud University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohanned S.","family":"Alsuhaibani","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital and Research center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yazeed","family":"Al-Alsheikh","sequence":"additional","affiliation":[{"name":"King Saud University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,8,5]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.4193\/Rhino16.248"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropsychologia.2015.04.028"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12782"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-02947-y"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2018.05.011"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1177\/1744806920923881"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-12-0578"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12491"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2632"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2013.07.070"},{"issue":"4","key":"e_1_3_3_12_2","first-page":"145","article-title":"Smell diskettes as screening test of olfaction","volume":"37","author":"Briner HR","year":"1999","unstructured":"Briner HR, Simmen D. Smell diskettes as screening test of olfaction. Rhinology. 1999;37(4):145-148.","journal-title":"Rhinology"},{"issue":"1","key":"e_1_3_3_13_2","first-page":"36","article-title":"A family showing smell disturbances and tremor","volume":"11","author":"Yamamoto K","year":"1966","unstructured":"Yamamoto K, Ito K, Yamaguchi M. A family showing smell disturbances and tremor. 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