{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:54:50Z","timestamp":1794020090728,"version":"4.8.0"},"reference-count":21,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T00:00:00Z","timestamp":1603929600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2018\/29\/B\/NZ5\/00330, 2015\/19\/B\/NZ5\/02243"],"award-info":[{"award-number":["2018\/29\/B\/NZ5\/00330, 2015\/19\/B\/NZ5\/02243"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Polish Ministry of Science and Higher Education","award":["2328\/EURO-WABB\/11\/2012\/2"],"award-info":[{"award-number":["2328\/EURO-WABB\/11\/2012\/2"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Bardet-Biedl syndrome (BBS) is a rare autosomal recessively inherited disease with major clinical symptoms such as: obesity, retinal degeneration, polydactyly and renal abnormalities. The aim of the study was to assess the spectrum of gene variants among patients with BBS, identified on the basis of nationwide genetic studies of monogenic diabetes in Polish population. Out of 575 patients enrolled for genetic testing from February 2017 to July 2019, 25 patients with a clinical suspicion of BBS were selected. The identification of pathogenic variants was performed by using targeted next-generation sequencing (NGS) on Illumina NextSeq 550 platform involving the SureSelect assay (Agilent, Santa Clara, CA, USA). BBS was genetically confirmed in 10 of 25 suspected patients. In patients, 14 different variants were found in six genes, mainly in BBS9 and BBS10 gene, including two novel variants. A strong association between hyperglycemia and insulin resistance in patients and the presence of variants in BBS9 gene was observed. Identification of 14 variants, including two new mutations using the NGS method, is the first molecular characteristic of Polish patients with Bardet\u2013Biedl syndrome. It gives hope for earlier proper diagnosis of BBS in future patients selected from children with early childhood obesity and their medical multidisciplinary care.<\/jats:p>","DOI":"10.3390\/genes11111283","type":"journal-article","created":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T21:21:00Z","timestamp":1604006460000},"page":"1283","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Next-Generation Sequencing in the Diagnosis of Patients with Bardet\u2013Biedl Syndrome\u2014New Variants and Relationship with Hyperglycemia and Insulin Resistance"],"prefix":"10.3390","volume":"11","author":[{"given":"Krzysztof","family":"Jeziorny","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Diabetology, Endocrinology and Nephrology, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Antosik","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulina","family":"Jakiel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2714-5851","authenticated-orcid":false,"given":"Wojciech","family":"M\u0142ynarski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 90-419 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej","family":"Borowiec","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8781-4469","authenticated-orcid":false,"given":"Agnieszka","family":"Zmys\u0142owska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","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":"ref_2","unstructured":"(2020, July 15). Prevalence and Incidence of Rare Diseases: Bibliographic Data. Orphanet Report Series, Rare Disease Collection. Available online: https:\/\/www.orpha.net\/orphacom\/cahiers\/docs\/GB\/Prevalence_of_rare_diseases_by_alphabetical_list.pdf."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Farmer, A., Aym\u00e9, S., de Heredia, M.L., Maffei, P., McCafferty, S., M\u0142ynarski, W., Nunes, V., Parkinson, K., Paquis-Flucklinger, V., and Rohayem, J. (2013). EURO-WABB: An EU rare diseases registry for Wolfram syndrome, Alstr\u00f6m syndrome and Bardet-Biedl syndrome. BMC Pediatrics, 13.","DOI":"10.1186\/1471-2431-13-130"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1136\/bjo.81.5.378","article-title":"Intrafamilial variation of the phenotype in Bardet-Biedl syndrome","volume":"81","author":"Riise","year":"1997","journal-title":"Br. J. Ophthalmol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/cge.12737","article-title":"Genetics of human Bardet-Biedl syndrome, an updates","volume":"90","author":"Khan","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"\u00c1lvarez-Satta, M., Castro-S\u00e1nchez, S., and Valverde, D. (2017). Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). Front. Mol. Biosci., 4.","DOI":"10.3389\/fmolb.2017.00055"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Forsythe, E., Kenny, J., Bacchelli, C., and Beales, P.L. (2018). Managing Bardet\u2013Biedl Syndrome\u2014Now and in the Future. Front. Pediatrics, 6.","DOI":"10.3389\/fped.2018.00023"},{"key":"ref_9","doi-asserted-by":"crossref","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":"ref_10","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/cge.12656","article-title":"Genetic evaluation of patients with Alstr\u00f6m syndrome in the Polish population","volume":"89","author":"Zmyslowska","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1136\/bmj.320.7244.1240","article-title":"Establishing a standard definition for child overweight and obesity worldwide: International survey","volume":"320","author":"Cole","year":"2000","journal-title":"BMJ"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., and Spector, E. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med.","DOI":"10.1038\/gim.2015.30"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: The human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"528","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":"ref_15","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30406","article-title":"Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study","volume":"132A","author":"Moore","year":"2005","journal-title":"Am. J. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1210\/jc.2017-01459","article-title":"The endocrine and metabolic characteristics of a large Bardet-Biedl Syndrome clinic population","volume":"103","author":"Mujahid","year":"2018","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"22","DOI":"10.2215\/CJN.03320410","article-title":"Bardet-Biedl Syndrome: A study of the renal and cardiovascular phenotypes in a French cohort","volume":"6","author":"Imhoff","year":"2011","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Esposito, G., Testa, F., Zacchia, M., Crispo, A.A., Di Iorio, V., Capolongo, G., Rinaldi, L., D\u2019Antonio, M., Fioretti, T., and Iadicicco, P. (2017). Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: Identification of eleven novel pathogenic sequence variants. BMC Med. Genet., 18.","DOI":"10.1186\/s12881-017-0372-0"},{"key":"ref_19","doi-asserted-by":"crossref","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":"ref_20","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1136\/jmedgenet-2015-103099","article-title":"Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families","volume":"52","author":"Ayuso","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","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. 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