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

Am J Med Genet A. 2017 Mar;173(3):661-666. doi:10.1002/ajmg.a.38005. Epub 2017 Jan 04
Thierry Vilboux 1 , May Christine V Malicdan 2 , Joseph C Roney 3 , Andrew R Cullinane 4 , Joshi Stephen 3 , Deniz Yildirimli 3 , Joy Bryant 3 , Roxanne Fischer 3 , Meghana Vemulapalli 5 , James C Mullikin 5 , NISC Comparative Sequencing Program 5 , Peter J Steinbach 6 , William A Gahl 7 , Meral Gunay-Aygun 7
Thierry Vilboux 1 , May Christine V Malicdan 2 , Joseph C Roney 3 , Andrew R Cullinane 4 , Joshi Stephen 3 , Deniz Yildirimli 3 , Joy Bryant 3 , Roxanne Fischer 3 , Meghana Vemulapalli 5 , James C Mullikin 5 , NISC Comparative Sequencing Program 5 , Peter J Steinbach 6 , William A Gahl 7 , Meral Gunay-Aygun 7
+ et al

[No authors listed]

Author information
  • 1 Inova Translational Medicine Institute, Falls Church, Virginia.
  • 2 NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
  • 3 Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • 4 Department of Anatomy, Howard University College of Medicine, Washington DC.
  • 5 NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • 6 Center for Molecular Modeling, Center for Information Technology, National Institutes of Health, Bethesda, Maryland.
  • 7 Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

摘要


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. © 2017 Wiley Periodicals, Inc.

KEYWORDS: CELSR2, Joubert syndrome, ciliopathy, planar cell polarity