biostudies-literatureUnknown10Schaefer EBardet-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 tFrontiers in genetics21https://www.ebi.ac.uk/biostudies/studies/S-EPMC6363664biostudies-literatureIdentification and Characterization of Known Biallelic Mutations in the <i>IFT27</i> (<i>BBS19</i>) Gene in a Novel Family With Bardet-Biedl Syndrome.PMC6363664Dollfus HDelvallee CGeoffroy VStoetzel CMary LMarks-Delesalle CHolder-Espinasse MGhoumid JSchaefer EMuller JfalseIdentification and Characterization of Known Biallelic Mutations in the <i>IFT27</i> (<i>BBS19</i>) Gene in a Novel Family With Bardet-Biedl Syndrome.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 t2019-01-01T00:00:00Z20192026-04-13T17:20:53.535Z2019-03-26T22:55:30ZS-EPMC63636643076118310.3389/fgene.2019.00021