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

• Published in: Orphanet journal of rare diseases Vol. 9; no. 1; p. 72
• Main 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
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 05-05-2014; BioMed Central
• Subjects: Abnormalities, Multiple; Adult; Cerebellar Diseases - genetics; Cerebellar Diseases - pathology; Cerebellum - abnormalities; Child; Child, Preschool; Ciliary Motility Disorders - genetics; Ciliary Motility Disorders - pathology; Cytoskeletal Proteins; Encephalocele - genetics; Encephalocele - pathology; Eye Abnormalities - genetics; Eye Abnormalities - pathology; Female; Humans; Kidney Diseases, Cystic - genetics; Kidney Diseases, Cystic - pathology; Letter to the Editor; Magnetic Resonance Imaging; Male; Medical research; Mutation; Polycystic Kidney Diseases - genetics; Polycystic Kidney Diseases - pathology; Proteins - genetics; Rare diseases; Retina - abnormalities; Retina - pathology; Retinitis Pigmentosa; Severity of Illness Index
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/1750-1172-9-72

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.