{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:04:51Z","timestamp":1756339491335,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","issue":"12","license":[{"start":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T00:00:00Z","timestamp":1733788800000},"content-version":"unspecified","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,11,16]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:p>Bardet\u2013Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a <jats:italic>BBS1<\/jats:italic> variant by delineating the clinical presentation in two siblings.<\/jats:p>","DOI":"10.1136\/bcr-2024-261874","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T19:10:21Z","timestamp":1733857821000},"page":"e261874","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical variability of <i>BBS1<\/i> across siblings"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-6900-6058","authenticated-orcid":false,"given":"Vanna","family":"Giang","sequence":"first","affiliation":[{"name":"Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6313-5947","authenticated-orcid":false,"given":"Sarah R","family":"Weber","sequence":"additional","affiliation":[{"name":"Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA"},{"name":"Kellogg Eye Center, Michigan Medicine, Ann Arbor, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey M","family":"Sundstrom","sequence":"additional","affiliation":[{"name":"Ophthalmology, Penn State College of Medicine, Hershey, Pennsylvania, USA"},{"name":"Kellogg Eye Center, Michigan Medicine, Ann Arbor, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,12,10]]},"reference":[{"key":"2025082708155144000_17.12.e261874.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.2.92"},{"key":"2025082708155144000_17.12.e261874.2","doi-asserted-by":"publisher","DOI":"10.2147\/TCRM.S338653"},{"key":"2025082708155144000_17.12.e261874.3","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1038\/s41431-024-01634-7","article-title":"Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations","volume":"32","author":"Dollfus","year":"2024","journal-title":"Eur J Hum Genet"},{"key":"2025082708155144000_17.12.e261874.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.visres.2012.08.005"},{"key":"2025082708155144000_17.12.e261874.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107626"},{"key":"2025082708155144000_17.12.e261874.6","doi-asserted-by":"crossref","first-page":"3757","DOI":"10.2147\/OPTH.S328493","article-title":"A Genotype\u2013Phenotype Analysis of the Bardet\u2013Biedl Syndrome in Puerto Rico","volume":"Volume 15","author":"Guardiola","year":"2021","journal-title":"OPTH"},{"key":"2025082708155144000_17.12.e261874.7","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2018.00023","article-title":"Managing Bardet-Biedl Syndrome-Now and in the Future","volume":"6","author":"Forsythe","year":"2018","journal-title":"Front Pediatr"},{"key":"2025082708155144000_17.12.e261874.8","doi-asserted-by":"crossref","first-page":"620","DOI":"10.4103\/0301-4738.194328","article-title":"Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management","volume":"64","author":"Priya","year":"2016","journal-title":"Indian J Ophthalmol"},{"key":"2025082708155144000_17.12.e261874.9","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-022-02602-4","article-title":"Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results","volume":"18","author":"Forsythe","year":"2023","journal-title":"Orphanet J Rare Dis"},{"key":"2025082708155144000_17.12.e261874.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2015.07.031"},{"key":"2025082708155144000_17.12.e261874.11","doi-asserted-by":"publisher","DOI":"10.1159\/000357054"},{"key":"2025082708155144000_17.12.e261874.12","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2012.2434"},{"key":"2025082708155144000_17.12.e261874.13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.6.437"},{"key":"2025082708155144000_17.12.e261874.14","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-021-01911-4","article-title":"Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome","volume":"16","author":"Pomeroy","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"2025082708155144000_17.12.e261874.15","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/cge.13500","article-title":"Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes","volume":"95","author":"Mary","year":"2019","journal-title":"Clin Genet"},{"key":"2025082708155144000_17.12.e261874.16","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2024.1424819","article-title":"Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. 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