Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

• Published in: Human molecular genetics Vol. 24; no. 1; pp. 230 - 242
• Main Authors: Bujakowska, Kinga M., Zhang, Qi, Siemiatkowska, Anna M., Liu, Qin, Place, Emily, Falk, Marni J., Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I., Cremers, Frans P.M., Leroy, Bart P., Gai, Xiaowu, Sahel, José-Alain, van den Born, L. Ingeborgh, Collin, Rob W.J., Zeitz, Christina, Audo, Isabelle, Pierce, Eric A.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press (OUP) 01.01.2015; Oxford University Press
• Subjects: Adolescent; Adult; Animals; Bardet-Biedl Syndrome - genetics; Bardet-Biedl Syndrome - pathology; Biochemistry, Molecular Biology; Carrier Proteins - genetics; Cells, Cultured; Exome; Female; Genomics; High-Throughput Nucleotide Sequencing; Humans; Life Sciences; Male; Mutation; Pedigree; Rats; Retina - metabolism; Retina - pathology; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - pathology; Sequence Analysis, DNA; Young Adult; Zebrafish

Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium. Mutations in genes coding for IFT components have been associated with a group...