{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T00:32:38Z","timestamp":1768523558462,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T00:00:00Z","timestamp":1684713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>GNB1<\/jats:italic>\u2010related disorder is characterized by intellectual disability, abnormal tone, and other variable neurologic and systemic features. <jats:italic>GNB1<\/jats:italic> encodes the \u03b21 subunit of the heterotrimeric G\u2010protein, a complex with a key role in signal transduction. Consistent with its particularly high expression in rod photoreceptors, <jats:italic>G<\/jats:italic><jats:sub>\u03b21<\/jats:sub> forms a subunit of retinal transducin (G<jats:sub>\u03b1t\u03b21\u03b31<\/jats:sub>), which mediates phototransduction. In mice, <jats:italic>GNB1<\/jats:italic> haploinsufficiency has been associated with retinal dystrophy. In humans, however, although vision and eye movement abnormalities are common in individuals with <jats:italic>GNB1<\/jats:italic>\u2010related disorder, rod\u2010cone dystrophy is not yet an established feature of this condition. We expand the phenotype of <jats:italic>GNB1<\/jats:italic>\u2010related disorder with the first confirmed report of rod\u2010cone dystrophy in an affected individual, and contribute to a further understanding of the natural history of this condition in a mildly affected 45\u2010year\u2010old adult.<\/jats:p>","DOI":"10.1002\/ajmg.c.32045","type":"journal-article","created":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T12:34:52Z","timestamp":1684758892000},"page":"183-187","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Rod\u2010cone dystrophy in an adult with <scp><i>GNB1<\/i><\/scp>\u2010related disorder: An expansion of the phenotype and natural history"],"prefix":"10.1002","volume":"193","author":[{"given":"Xiao\u2010Ru","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faazil","family":"Kassam","sequence":"additional","affiliation":[{"name":"Calgary Retina Consultants  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Micheil","family":"Innes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Department of Pediatrics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.735549"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5367.1271"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40472"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.05-1164"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2009.0077"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv197"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx018"},{"key":"e_1_2_4_9_1","first-page":"1496","article-title":"A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa","volume":"12","author":"Mylvaganam","year":"2006","journal-title":"Molecular Vision"},{"key":"e_1_2_4_10_1","article-title":"Retinal rods and cones have distinct G protein f8 and y subunits","volume":"89","author":"Peng Y.\u2010W.","year":"1992","journal-title":"Cell Biology"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.011"},{"key":"e_1_2_4_12_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Revah\u2010Politi A.","year":"2020"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1477"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2016.08.002"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1260419"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.visres.2008.03.010"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31834"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/aps.2011.171"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.32045","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T01:33:07Z","timestamp":1692495187000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.32045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,22]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/ajmg.c.32045"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.32045","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,22]]},"assertion":[{"value":"2023-03-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}