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01.12.2014 | Letter to the Editor | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente
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Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-72) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

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.
Additional file 1:Supplementary material. Supplementary Methods. Prediction of the effect of MKS1 splice-site mutations. Case Reports. (PDF 170 KB)
Authors’ original file for figure 1
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