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The online version of this article (doi:10.1186/1750-1172-9-72) contains supplementary material, which is available to authorized users.
The authors declare that they have no competing interests.
Patients’ recruitment, data collection, analysis of clinical and imaging data: IK, MTD, MC, LS, FM, BH, MAC, FD, AM, AZ, NGK, EMV; molecular genetic studies: MR, AM, RR; bioinformatics analysis: TM, SC; study conception and design, manuscript drafting: MR, EMV. All authors revised the manuscript critically and approved the final version.
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome.