{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:01:30Z","timestamp":1760148090868,"version":"build-2065373602"},"reference-count":36,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T00:00:00Z","timestamp":1680134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients with molecularly confirmed CNGB1-related RP were included. All patients underwent a complete ophthalmological examination complemented by psychophysical olfactory evaluation. Fifteen patients (10 families: 8 Portuguese, 1 French, and 1 Turkish), mean aged 57.13 \u00b1 15.37 years old (yo), were enrolled. Seven disease-causing variants were identified, two of which are reported for the first time: c.2565_2566del and c.2285G &gt; T. Although 11\/15 patients reported onset of nyctalopia before age 10, diagnosis was only established after 30 yo in 9\/15. Despite widespread retinal degeneration being present in 14\/15 probands, a relatively preserved visual acuity was observed throughout follow-up. Olfactory function was preserved in only 4\/15 patients, all of whom carried at least one missense variant. Our study supports previous reports of an autosomal recessive RP-olfactory dysfunction syndrome in association with certain disease-causing variants in the CNGB1 gene and expands the mutational spectrum of CNGB1-related disease by reporting two novel variants.<\/jats:p>","DOI":"10.3390\/genes14040830","type":"journal-article","created":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T03:17:35Z","timestamp":1680146255000},"page":"830","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6851-6201","authenticated-orcid":false,"given":"Sara","family":"Geada","sequence":"first","affiliation":[{"name":"Ophthalmology Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC), 3000-075 Coimbra, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3621-2203","authenticated-orcid":false,"given":"Francisco","family":"Teixeira-Marques","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Centro Hospitalar do T\u00e2mega e Sousa (CHTS), 4560-162 Penafiel, Portugal"}]},{"given":"Bruno","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Ophthalmology Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC), 3000-075 Coimbra, Portugal"}]},{"given":"Ana Lu\u00edsa","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra, 3000-602 Coimbra, Portugal"},{"name":"Clinical Academic Center of Coimbra (CACC), 3000-354 Coimbra, Portugal"},{"name":"University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal"},{"name":"University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal"}]},{"given":"Nuno","family":"Lousan","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Centro Hospitalar do T\u00e2mega e Sousa (CHTS), 4560-162 Penafiel, Portugal"}]},{"given":"Jorge","family":"Saraiva","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra, 3000-602 Coimbra, Portugal"},{"name":"Clinical Academic Center of Coimbra (CACC), 3000-354 Coimbra, Portugal"},{"name":"University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal"},{"name":"University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal"}]},{"given":"Joaquim","family":"Murta","sequence":"additional","affiliation":[{"name":"Ophthalmology Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC), 3000-075 Coimbra, Portugal"},{"name":"Clinical Academic Center of Coimbra (CACC), 3000-354 Coimbra, Portugal"},{"name":"University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8676-0833","authenticated-orcid":false,"given":"Rufino","family":"Silva","sequence":"additional","affiliation":[{"name":"Ophthalmology Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC), 3000-075 Coimbra, Portugal"},{"name":"Clinical Academic Center of Coimbra (CACC), 3000-354 Coimbra, Portugal"},{"name":"University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal"}]},{"given":"Xavier","family":"Zanlonghi","sequence":"additional","affiliation":[{"name":"Eye Department, Rennes University Hospital, 35 033 Rennes, France"}]},{"given":"Sabine","family":"Defoort-Dhellemmes","sequence":"additional","affiliation":[{"name":"Department of Visual Exploration and Neuro-Ophthalmology, Robert Salengro Hospital, 59 037 Lille, France"},{"name":"Sensgene Care Network, 67 091 Strasbourg, France"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4172-514X","authenticated-orcid":false,"given":"Vasily","family":"Smirnov","sequence":"additional","affiliation":[{"name":"Department of Visual Exploration and Neuro-Ophthalmology, Robert Salengro Hospital, 59 037 Lille, France"},{"name":"Sensgene Care Network, 67 091 Strasbourg, France"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4719-4124","authenticated-orcid":false,"given":"Claire-Marie","family":"Dhaenens","sequence":"additional","affiliation":[{"name":"University of Lille, INSERM, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, 59 000 Lille, France"}]},{"given":"Catherine","family":"Blanchet","sequence":"additional","affiliation":[{"name":"Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, 34 295 Montpellier, France"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3407-5265","authenticated-orcid":false,"given":"Isabelle","family":"Meunier","sequence":"additional","affiliation":[{"name":"Sensgene Care Network, 67 091 Strasbourg, France"},{"name":"Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, 34 295 Montpellier, France"},{"name":"Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, 34 091 Montpellier, France"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"additional","affiliation":[{"name":"Ophthalmology Unit, Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC), 3000-075 Coimbra, Portugal"},{"name":"Clinical Academic Center of Coimbra (CACC), 3000-354 Coimbra, Portugal"},{"name":"University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), 3000-354 Coimbra, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog. 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