title: Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
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.
authors.forename: Marta
authors.initials: M
authors.lastname: Romani
authors.forename: Alessia
authors.initials: A
authors.lastname: Micalizzi
authors.forename: Ichraf
authors.initials: I
authors.lastname: Kraoua
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Mara
authors.initials: M
authors.lastname: Cavallin
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
authors.forename: Rosario
authors.initials: R
authors.lastname: Ruta
authors.forename: Francesca
authors.initials: F
authors.lastname: Mancini
authors.forename: Tommaso
authors.initials: T
authors.lastname: Mazza
authors.forename: Stefano
authors.initials: S
authors.lastname: Castellana
authors.forename: Benrhouma
authors.initials: B
authors.lastname: Hanene
authors.forename: Maria Alessandra
authors.initials: MA
authors.lastname: Carluccio
authors.forename: Francesca
authors.initials: F
authors.lastname: Darra
authors.forename: Adrienn
authors.initials: A
authors.lastname: Máté
authors.forename: Alíz
authors.initials: A
authors.lastname: Zimmermann
authors.forename: Neziha
authors.initials: N
authors.lastname: Gouider-Khouja
authors.affiliation: IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, Neurogenetics Unit, San Giovanni Rotondo, Italy. e.valente@css-mendel.it.
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002925:Ciliary Motility Disorders / Q000235:genetics* / Q000473:pathology; D003598:Cytoskeletal Proteins; D004677:Encephalocele / Q000235:genetics* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000235:genetics* / Q000473:pathology; D011506:Proteins / Q000235:genetics*; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D012174:Retinitis Pigmentosa; D012720:Severity of Illness Index
chemical_list: C000592877:B9D1 protein, human; D003598:Cytoskeletal Proteins; C509165:MKS1 protein, human; D011506:Proteins