Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Field, M.Scheffer, I.Gill, D.Wilson, M.Christie, L.Shaw, M.Gardner, A.Glubb, G.Hobson, L.Corbett, M.Friend, K.Willis-Owen, S.Gecz, J.2012-08-092012-08-092012European Journal of Human Genetics, 2012; 20(7):806-8091018-48131476-5438http://hdl.handle.net/2440/72408Using a combination of linkage mapping and massively parallel sequencing of the X-chromosome exome, we identified an 18-bp deletion in exon 8 of the oral-facial-digital syndrome type 1 (OFD1) gene in a family with X-linked Joubert syndrome (JBTS10). The deletion results in an in-frame deletion of six amino acids. New features not noted in the two previously reported cases of X-linked Joubert syndrome include the presence of polycystic kidney disease, polymicrogyria and hydrocephalus. Our study further underlines the power of genetic mapping combined with massively parallel sequencing as a powerful tool for novel disease gene and mutation discovery.en© 2012 Macmillan PublishersOFD1X-linked JoubertX-linked intellectual disabilitymassively parallel sequencingExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsJournal article002012025410.1038/ejhg.2012.90003053459000152-s2.0-8486372327724078Shaw, M. [0000-0002-5060-190X]Gardner, A. [0009-0009-7321-1697]Corbett, M. [0000-0001-9298-3072]Gecz, J. [0000-0002-7884-6861]