Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

Organogenesis. 2014 Jan 1;10(1):96-107. doi: 10.4161/org.27375. Epub 2013 Dec 9.


The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems.

Keywords: Hedgehog; Joubert syndrome; Meckel-Gruber syndrome; Wnt; brain; cilia; ciliopathy; kidney; nephronophthisis; signalling; skeleton.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bone and Bones / cytology
  • Bone and Bones / embryology*
  • Central Nervous System / cytology
  • Central Nervous System / embryology*
  • Cilia / metabolism*
  • Ciliary Motility Disorders / physiopathology*
  • Encephalocele / physiopathology*
  • Humans
  • Kidney / cytology
  • Kidney / enzymology*
  • Kidney Diseases / physiopathology
  • Polycystic Kidney Diseases / physiopathology*
  • Retinitis Pigmentosa

Supplementary concepts

  • Meckel syndrome type 1