{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T12:02:11Z","timestamp":1780056131149,"version":"3.54.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T00:00:00Z","timestamp":1634256000000},"content-version":"vor","delay-in-days":287,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Youth Talent Project of Xingtai","award":["2020ZZ052"],"award-info":[{"award-number":["2020ZZ052"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Bardet\u2010Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod\u2010cone dystrophy, and mental retardation. Twenty\u2010one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole\u2010exome sequencing on one patient. We identified a novel homozygous variant c.1114C&gt;T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing. We report a novel homozygous variant c.1114C&gt;T in the BBS9 gene in a Chinese family.<\/jats:p>","DOI":"10.1155\/2021\/4514967","type":"journal-article","created":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T23:00:40Z","timestamp":1634338840000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Novel BBS9 Mutation Identified via Whole\u2010Exome Sequencing in a Chinese Family with Bardet\u2010Biedl Syndrome"],"prefix":"10.1155","volume":"2021","author":[{"given":"Yue","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manhong","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minglian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1019-2021","authenticated-orcid":false,"given":"Guoxing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0641-2797","authenticated-orcid":false,"given":"Xiaorong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10,15]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.4103\/0301-4738.194328"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12737"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1159\/000357054"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21480"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.6.437"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/524754"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11427-017-9085-7"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/6751857"},{"key":"e_1_2_10_9_2","first-page":"73","article-title":"A novel H395R mutation in MKKS\/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome","volume":"22","author":"Hulleman J. 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