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

Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72.

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.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Polycystic Kidney Diseases / genetics*
  • Polycystic Kidney Diseases / pathology
  • Proteins / genetics*
  • Retina / abnormalities*
  • Retina / pathology
  • Retinitis Pigmentosa
  • Severity of Illness Index

Substances

  • B9D1 protein, human
  • Cytoskeletal Proteins
  • MKS1 protein, human
  • Proteins

Supplementary concepts

  • Agenesis of Cerebellar Vermis
  • Meckel syndrome type 1