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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
Romani, Marta; Micalizzi, Alessia; Kraoua, Ichraf; Dotti, Maria Teresa; Cavallin, Mara; Sztriha, László; Ruta, Rosario; Mancini, Francesca; Mazza, Tommaso; Castellana, Stefano; Hanene, Benrhouma; Carluccio, Maria Alessandra; Darra, Francesca; Máté, Adrienn; Zimmermann, Alíz; Gouider-Khouja, Neziha; Valente, Enza Maria
- 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.
- Subjects
JOUBERT syndrome; GENOTYPE-environment interaction; CILIOPATHY; PHENOTYPES; MULTIPLE organ failure; BRAIN stem; NEURAL development
- Publication
Orphanet Journal of Rare Diseases, 2014, Vol 9, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/1750-1172-9-72