{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T07:06:21Z","timestamp":1784099181919,"version":"3.55.0"},"reference-count":10,"publisher":"Cold Spring Harbor Laboratory","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>Biallelic variants in the<jats:italic>WFS1<\/jats:italic>gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of phenotypes, such as Wolfram-like syndrome or isolated features of Wolfram syndrome. In this case report, we present a male patient with a history of congenital cataracts and subjective complaints of muscle weakness. Clinical assessment demonstrated normal muscle strength, and genomic, biochemical, electrophysiologic, and muscle biopsy studies did not identify a potential cause of the proband's perceived muscle weakness. Whole-exome sequencing identified a novel de novo variant in the<jats:italic>WFS1<\/jats:italic>gene (c.1243G &gt; T), representing one of only several patients in the published literature with isolated congenital cataracts and a heterozygous<jats:italic>WFS1<\/jats:italic>variant. The variety of phenotypes associated with heterozygous variants in<jats:italic>WFS1<\/jats:italic>suggests that this gene should be considered as a cause of both dominant and biallelic\/recessive forms of disease. Future research should focus on elucidating the mechanism(s) of disease and variable expressivity in<jats:italic>WFS1<\/jats:italic>in order to improve our ability to provide patients and families with anticipatory guidance about the disease, including appropriate screening and medical interventions.<\/jats:p>","DOI":"10.1101\/mcs.a006259","type":"journal-article","created":{"date-parts":[[2023,2,13]],"date-time":"2023-02-13T17:35:16Z","timestamp":1676309716000},"page":"a006259","source":"Crossref","is-referenced-by-count":5,"title":["A novel<i>WFS1<\/i>variant associated with isolated congenital cataracts"],"prefix":"10.1101","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6010-6339","authenticated-orcid":false,"given":"Angela","family":"Krutish","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Elmore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Werner","family":"Ilse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine L.","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dustin","family":"Hittel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneal","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Rockman-Greenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2354-2916","authenticated-orcid":false,"given":"Aizeddin A.","family":"Mhanni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the Canadian Prairie Metabolic Network (CPMN)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2023,2,13]]},"reference":[{"key":"2023032408550856000_9.1.a006259.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.visres.2005.09.039"},{"key":"2023032408550856000_9.1.a006259.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61945"},{"key":"2023032408550856000_9.1.a006259.3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.52"},{"key":"2023032408550856000_9.1.a006259.4","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040580"},{"key":"2023032408550856000_9.1.a006259.5","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1909378117"},{"key":"2023032408550856000_9.1.a006259.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.08.009"},{"key":"2023032408550856000_9.1.a006259.7","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2021.0385"},{"key":"2023032408550856000_9.1.a006259.8","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2023032408550856000_9.1.a006259.9","first-page":"2007","article-title":"Cat-Map: putting cataract on the map","volume":"16","year":"2010","journal-title":"Mol Vis"},{"key":"2023032408550856000_9.1.a006259.10","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2019.7865"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a006259","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,24]],"date-time":"2023-03-24T15:55:30Z","timestamp":1679673330000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a006259"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,3,24]]},"published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1101\/mcs.a006259"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a006259","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2]]}}}