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

Orphanet Journal of Rare Diseases

Enza Maria Valente⁵  Neziha Gouider-Khouja⁴  Alíz Zimmermann⁷  Adrienn Máté⁸  Francesca Darra¹  Maria Alessandra Carluccio⁶  Benrhouma Hanene⁴  Stefano Castellana³  Tommaso Mazza³  Francesca Mancini³  Rosario Ruta³  László Sztriha⁷  Mara Cavallin¹  Maria Teresa Dotti⁶  Ichraf Kraoua⁴  Alessia Micalizzi²  Marta Romani³ 

[1] Unit of Child Neuropsychiatry, Policlinico G.B. Rossi, Verona, Italy;Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy;IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, Neurogenetics Unit, San Giovanni Rotondo, Italy;Research Unit 06/11 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia;Department of Medicine and Surgery, University of Salerno, Salerno, Italy;Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy;Department of Paediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary;Department of Neurosurgery, Faculty of Medicine, University of Szeged, Szeged, Hungary

关键词: Genotype-phenotype correlates;    B9D1;    MKS1;    Primary cilium;    Ciliopathies;    Meckel syndrome;    Joubert syndrome;   

Others  :  861764
DOI  :  10.1186/1750-1172-9-72

 received in 2014-01-14, accepted in 2014-04-29,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Romani et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

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