Article
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
American journal of human genetics - 1 Oct 2009
Coene Karlien L M, Roepman Ronald, Doherty Dan, Afroze Bushra, Kroes Hester Y, Letteboer Stef J F, Ngu Lock H, Budny Bartlomiej, van Wijk Erwin, Gorden Nicholas T, Azhimi Malika, Thauvin-Robinet Christel, Veltman Joris A, Boink Mireille, Kleefstra Tjitske, Cremers Frans P M, van Bokhoven Hans, de Brouwer Arjan P M
Abstract excerpt
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 classifies this syndrome as classic JS with retinal...
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