{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T11:03:59Z","timestamp":1761563039890,"version":"build-2065373602"},"reference-count":40,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T00:00:00Z","timestamp":1710720000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Israel Ministry of Health","award":["3-18611"],"award-info":[{"award-number":["3-18611"]}]},{"name":"Sisenwein Research Fund","award":["3-18611"],"award-info":[{"award-number":["3-18611"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Bardet\u2013Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod\u2013cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inversion probes-based panel that targets the exons and splice sites of 113 genes associated with retinitis pigmentosa and Leber congenital amaurosis revealed a homozygous rare missense variant in the BBS9 gene (c.263C&gt;T;p.(Ser88Leu)). This variant, which affects a highly conserved amino acid, is also located in the last base of Exon 3, and predicted to be splice-altering. An in vitro minigene splice assay demonstrated that this variant leads to the partial aberrant splicing of Exon 3. Therefore, we suggest that this variant is likely hypomorphic. This is in agreement with the relatively mild phenotype observed in the patient. Hence, the findings in our study expand the phenotypic spectrum associated with BBS9 variants and indicate that variants in this gene should be considered not only in BBS patients but also in individuals with non-syndromic IRD or IRD with very mild extra-ocular manifestations.<\/jats:p>","DOI":"10.3390\/cimb46030163","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T10:54:38Z","timestamp":1710759278000},"page":"2566-2575","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Autosomal Recessive Rod\u2013Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9"],"prefix":"10.3390","volume":"46","author":[{"given":"Iris","family":"Deitch","sequence":"first","affiliation":[{"name":"Rabin Medical Center, Department of Ophthalmology, Petach Tikva 4941492, Israel"},{"name":"Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Itskov","sequence":"additional","affiliation":[{"name":"Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daan","family":"Panneman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aasem","family":"Abu Shtaya","sequence":"additional","affiliation":[{"name":"Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva 4941492, Israel"},{"name":"Unit of Gastroenterology, Carmel Medical Center, Haifa 3436212, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tal","family":"Saban","sequence":"additional","affiliation":[{"name":"Rabin Medical Center, Department of Ophthalmology, Petach Tikva 4941492, Israel"},{"name":"Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9855-9472","authenticated-orcid":false,"given":"Yael","family":"Goldberg","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel"},{"name":"Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva 4941492, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6714-9051","authenticated-orcid":false,"given":"Miriam","family":"Ehrenberg","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel"},{"name":"Schneider Children\u2019s Medical Center of Israel, Department of Ophthalmology, Petach Tikva 4920235, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans P. M.","family":"Cremers","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9038-0067","authenticated-orcid":false,"given":"Susanne","family":"Roosing","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamar","family":"Ben-Yosef","sequence":"additional","affiliation":[{"name":"Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1167\/tvst.7.4.6","article-title":"Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps","volume":"7","author":"Duncan","year":"2018","journal-title":"Transl. 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