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.

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

DARRA, Francesca;
2014-01-01

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.
2014
Abnormalities, Multiple; Adult; Cerebellar Diseases; Cerebellum; Child; Child, Preschool; Ciliary Motility Disorders; Encephalocele; Eye Abnormalities; Female; Humans; Kidney Diseases, Cystic; Magnetic Resonance Imaging; Male; Polycystic Kidney Diseases; Proteins; Retina; Severity of Illness Index; Mutation
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/933382
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