{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:15:17Z","timestamp":1787026517318,"version":"build-2736575974"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T00:00:00Z","timestamp":1721260800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"\n Introduction<\/jats:title>\n Bardet\u2013Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney anomalies. This syndrome has an autosomal recessive type of inheritance. For the first time, molecular genetic testing has been provided for a large cohort of Russian patients with Bardet\u2013Biedl syndrome.<\/jats:p>\n <\/jats:sec>\n \n Materials and methods<\/jats:title>\n \n Genetic testing was provided to 61 unrelated patients using an MPS panel that includes coding regions and intronic areas of all genes (\n n<\/jats:italic>\n = 21) currently associated with Bardet\u2013Biedl syndrome.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The diagnosis was confirmed for 41% of the patients (\n n<\/jats:italic>\n = 25). Disease-causing variants were observed in\n BBS1, BBS4, BBS7, TTC8, BBS9, BBS10, BBS12<\/jats:italic>\n , and\n MKKS<\/jats:italic>\n genes\n .<\/jats:italic>\n In most cases, pathogenic and likely pathogenic variants were localized in\n BBS1, BBS10<\/jats:italic>\n , and\n BBS7<\/jats:italic>\n genes; recurrent variants were also observed in these genes.\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n \n The frequency of pathogenic and likely pathogenic variants in the\n BBS1<\/jats:italic>\n and\n BBS10<\/jats:italic>\n genes among Russian patients matches the research data in other countries. The frequency of pathogenic variants in the\n BBS7<\/jats:italic>\n gene is about 1.5%\u20132% of patients with Bardet\u2013Biedl syndrome, while in the cohort of Russian patients, the fraction is 24%. In addition, the recurrent pathogenic variant c.1967_1968delinsC was detected in the\n BBS7<\/jats:italic>\n gene. The higher frequency of this variant in the Russian population, as well as the lack of association of this pathogenic variant with Bardet\u2013Biedl syndrome in other populations, suggests that the variant c.1967_1968delinsC in the\n BBS7<\/jats:italic>\n gene is major and has a founder effect in the Russian population. Results provided in this article show the significant role of pathogenic variants in the\n BBS7<\/jats:italic>\n gene for patients with Bardet\u2013Biedl syndrome in the Russian population.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fgene.2024.1419025","type":"journal-article","created":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T01:00:35Z","timestamp":1721264435000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet\u2013Biedl syndrome"],"prefix":"10.3389","volume":"15","author":[{"given":"M.","family":"Orlova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Gundorova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Kadnikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Polyakov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,7,18]]},"reference":[{"key":"B1","volume-title":"NGSData","author":"Beskorovayniy","year":"2024"},{"key":"B2","doi-asserted-by":"publisher","first-page":"181","DOI":"10.3109\/13816810.2011.567319","article-title":"BBS mutational analysis: a strategic approach","volume":"32","author":"Billingsley","year":"2011","journal-title":"Ophthalmic Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"E737","DOI":"10.1002\/humu.21040","article-title":"BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population","volume":"30","author":"Bin","year":"2009","journal-title":"Hum. Mutat."},{"key":"B4","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1002\/humu.21480","article-title":"BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition","volume":"32","author":"Deveault","year":"2011","journal-title":"Hum. Mutat."},{"key":"B5","doi-asserted-by":"publisher","first-page":"2666","DOI":"10.1002\/ajmg.a.33650","article-title":"Two sibs with Bardet\u2013Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10","author":"Dulfer","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"B6","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1016\/j.ejmg.2015.10.011","article-title":"Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes","volume":"58","author":"Ece Solmaz","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1111\/j.1399-0004.1989.tb03378.x","article-title":"High incidence of Bardet biedl syndrome among the bedouin","volume":"36","author":"Farag","year":"1989","journal-title":"Clin. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"e104","DOI":"10.1136\/jmg.40.8.e104","article-title":"Further support for digenic inheritance in Bardet-Biedl syndrome","volume":"40","author":"Fauser","year":"2003","journal-title":"J. Med. Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"E528","DOI":"10.1210\/jc.2010-2290","article-title":"Patients with bardet-biedl syndrome have hyperleptinemia suggestive of leptin resistance","volume":"96","author":"Feuillan","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"B10","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet\u2013biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1038\/sj.ejhg.5201372","article-title":"Testing for triallelism: analysis of six BBS genes in a Bardet\u2013Biedl syndrome family cohort","volume":"13","author":"Hichri","year":"","journal-title":"Eur. J. Hum. Genet."},{"key":"B13","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1038\/sj.ejhg.5201372","article-title":"Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort","volume":"13","author":"Hichri","year":"","journal-title":"Eur. J. Hum. Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1007\/s00439-010-0902-8","article-title":"Mutation analysis in Bardet\u2013Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals","volume":"129","author":"Janssen","year":"2011","journal-title":"Hum. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"2256","DOI":"10.1126\/science.1063525","article-title":"Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder","volume":"293","author":"Katsanis","year":"2001","journal-title":"Science"},{"key":"B16","doi-asserted-by":"publisher","first-page":"65R","DOI":"10.1093\/hmg\/ddh092","article-title":"The oligogenic properties of Bardet-Biedl syndrome","volume":"13","author":"Katsanis","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1016\/j.ajhg.2014.03.017","article-title":"Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to bardet-biedl syndrome","volume":"94","author":"Lindstrand","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1186\/s13052-019-0659-1","article-title":"Mutation profile of BBS genes in patients with Bardet\u2013Biedl syndrome: an Italian study","volume":"45","author":"Manara","year":"2019","journal-title":"Ital. J. Pediatr."},{"key":"B19","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1002\/path.4881","article-title":"Motile and non\u2010motile cilia in human pathology: from function to phenotypes","volume":"241","author":"Mitchison","year":"2017","journal-title":"J. Pathol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1007\/s00439-010-0804-9","article-title":"Identification of 28 novel mutations in the Bardet\u2013Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease","volume":"127","author":"Muller","year":"2010","journal-title":"Hum. Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1086\/346172","article-title":"Evaluation of complex inheritance involving the most common bardet-biedl syndrome locus (BBS1)","volume":"72","author":"Mykytyn","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/ng935","article-title":"Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome","volume":"31","author":"Mykytyn","year":"2002","journal-title":"Nat. Genet."},{"key":"B23","volume-title":"Access through the online service \u00abNGSData\u00bb","year":"2024"},{"key":"B24","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1038\/s41525-022-00311-2","article-title":"Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome","volume":"7","author":"Perea-Romero","year":"2022","journal-title":"NPJ Genom Med."},{"key":"B25","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1053\/j.ajkd.2019.12.008","article-title":"Exome sequencing and identification of phenocopies in patients with clinically presumed hereditary nephropathies","volume":"76","author":"Riedhammer","year":"2020","journal-title":"Am. J. Kidney Dis."},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.25557\/2073-7998.2019.02.3-24","article-title":"Guidelines for the interpretation of massive parallel sequencing variants (update 2018, v2)","volume":"2","author":"Ryzhkova","year":"2019","journal-title":"Med. Genet."},{"key":"B27","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1111\/cge.12342","article-title":"Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort","volume":"87","author":"Sathya Priya","year":"2015","journal-title":"Clin. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1016\/j.ajo.2015.05.007","article-title":"Predominantly cone-system dysfunction as rare form of retinal degeneration in patients with molecularly confirmed bardet-biedl syndrome","volume":"160","author":"Scheidecker","year":"2015","journal-title":"Am. J. Ophthalmol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1186\/s13059-016-1099-5","article-title":"Characterizing the morbid genome of ciliopathies","volume":"17","author":"Shaheen","year":"2016","journal-title":"Genome Biol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s10038-005-0320-2","article-title":"BBS8 is rarely mutated in a cohort of 128 Bardet\u2013Biedl syndrome families","volume":"51","author":"Stoetzel","year":"2006","journal-title":"J. Hum. Genet."},{"key":"B31","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1159\/000371408","article-title":"Exome sequencing of a family with bardet-biedl syndrome identifies the common Russian mutation c.1967_1968delTAinsC in BBS7","volume":"6","author":"Suspitsin","year":"2015","journal-title":"Mol. Syndromol."},{"key":"B32","doi-asserted-by":"publisher","first-page":"1514","DOI":"10.1002\/humu.24064","article-title":"Genetic architecture of inherited retinal degeneration in Germany: a large cohort study from a single diagnostic center over a 9-year period","volume":"41","author":"Weisschuh","year":"2020","journal-title":"Hum. Mutat."},{"key":"B33","unstructured":"Wizard\u00ae genomic DNA purification Kit2023"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1254806","DOI":"10.1126\/science.1254806","article-title":"RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease","volume":"347","author":"Xiong","year":"2015","journal-title":"Science"},{"key":"B35","doi-asserted-by":"publisher","first-page":"1171","DOI":"10.1038\/gim.2017.31","article-title":"Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development","volume":"19","author":"Yates","year":"2017","journal-title":"Genet. Med."},{"key":"B36","doi-asserted-by":"publisher","first-page":"10602","DOI":"10.1073\/pnas.1000219107","article-title":"Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet\u2013Biedl syndrome","volume":"107","author":"Zaghloul","year":"2010","journal-title":"Proc. Natl. Acad. Sci."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1419025\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T01:00:40Z","timestamp":1721264440000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1419025\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,18]]},"references-count":36,"alternative-id":["10.3389\/fgene.2024.1419025"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2024.1419025","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,18]]},"article-number":"1419025"}}