OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.


We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier females suggested an X-linked recessive inheritance pattern. Affected males presented with mental retardation accompanied by postaxial polydactyly and retinitis pigmentosa. Brain MRIs showed the presence of a "molar tooth sign," which… (More)
DOI: 10.1016/j.ajhg.2009.09.002


9 Figures and Tables