CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

NISC Comparative Sequencing Program

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Abstract

Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic “molar tooth sign” on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity. Here, we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Original languageEnglish (US)
Pages (from-to)661-666
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number3
DOIs
StatePublished - Mar 1 2017
Externally publishedYes

Keywords

  • CELSR2
  • Joubert syndrome
  • ciliopathy
  • planar cell polarity

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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