2. Academic Validation
  3. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

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

  • Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72.
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 1
Affiliations

Affiliation

  • 1 IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, Neurogenetics Unit, San Giovanni Rotondo, Italy. e.valente@css-mendel.it.
PMID: 24886560 DOI: 10.1186/1750-1172-9-72
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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