Ontology highlight
ABSTRACT:
SUBMITTER: Tuz K
PROVIDER: S-EPMC3882733 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Tuz Karina K Bachmann-Gagescu Ruxandra R O'Day Diana R DR Hua Kiet K Isabella Christine R CR Phelps Ian G IG Stolarski Allan E AE O'Roak Brian J BJ Dempsey Jennifer C JC Lourenco Charles C Alswaid Abdulrahman A Bönnemann Carsten G CG Medne Livija L Nampoothiri Sheela S Stark Zornitza Z Leventer Richard J RJ Topçu Meral M Cansu Ali A Jagadeesh Sujatha S Done Stephen S Ishak Gisele E GE Glass Ian A IA Shendure Jay J Neuhauss Stephan C F SC Haldeman-Englert Chad R CR Doherty Dan D Ferland Russell J RJ
American journal of human genetics 20131219 1
Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 (centrosome and spindle pole associated protein 1) mutations in 19 JBTS-affected individuals, four of whom also have features of JATD. CSPP1 mutations explain ∼5% of JBTS in our cohort, and despite truncating mutations in all affected individuals, the range of phenotypic sever ...[more]