{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10"],"submitter":["Schaefer E"],"pubmed_abstract":["Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have been identified to cause the disease. We report a family with typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, cognitive impairment, and atrioventricular septal defect) mutated in <i>IFT27/BBS19</i>. IFT27 is part of the Intraflagellar transport (IFT), a bidirectional mechanism allowing the protein motility within the cilia. Using whole exome sequencing, two compound heterozygous mutations were found in the proband (NM_006860.4:c.[104A > G];[349+1G > T], p.[Tyr35Cys];[?]) consistent with the expected autosomal recessive inheritance mode. These t"],"journal":["Frontiers in genetics"],"pagination":["21"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6363664"],"repository":["biostudies-literature"],"pubmed_title":["Identification and Characterization of Known Biallelic Mutations in the <i>IFT27</i> (<i>BBS19</i>) Gene in a Novel Family With Bardet-Biedl Syndrome."],"pmcid":["PMC6363664"],"pubmed_authors":["Dollfus H","Delvallee C","Geoffroy V","Stoetzel C","Mary L","Marks-Delesalle C","Holder-Espinasse M","Ghoumid J","Schaefer E","Muller J"],"additional_accession":[]},"is_claimable":false,"name":"Identification and Characterization of Known Biallelic Mutations in the <i>IFT27</i> (<i>BBS19</i>) Gene in a Novel Family With Bardet-Biedl Syndrome.","description":"Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have been identified to cause the disease. We report a family with typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, cognitive impairment, and atrioventricular septal defect) mutated in <i>IFT27/BBS19</i>. IFT27 is part of the Intraflagellar transport (IFT), a bidirectional mechanism allowing the protein motility within the cilia. Using whole exome sequencing, two compound heterozygous mutations were found in the proband (NM_006860.4:c.[104A > G];[349+1G > T], p.[Tyr35Cys];[?]) consistent with the expected autosomal recessive inheritance mode. These t","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019","modification":"2026-04-13T17:20:53.535Z","creation":"2019-03-26T22:55:30Z"},"accession":"S-EPMC6363664","cross_references":{"pubmed":["30761183"],"doi":["10.3389/fgene.2019.00021"]}}