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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article number72
JournalOrphanet Journal of Rare Diseases
Volume9
Issue number1
DOIs
Publication statusPublished - May 5 2014

Keywords

  • B9D1
  • Ciliopathies
  • Genotype-phenotype correlates
  • Joubert syndrome
  • Meckel syndrome
  • MKS1
  • Primary cilium

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

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  • Cite this

    Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carluccio, M. A., Darra, F., Máté, A., Zimmermann, A., Gouider-Khouja, N., & Valente, E. M. (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, 9(1), [72]. https://doi.org/10.1186/1750-1172-9-72