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Open Access 01-12-2014 | Letter to the Editor

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

Authors: 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

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

Abstract

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.

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Title: Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Authors: 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
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-9-72

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

Abstract

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Abstract

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