Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 173, Issue 3, Pages 661-666Publisher
WILEY
DOI: 10.1002/ajmg.a.38005
Keywords
Joubert syndrome; CELSR2; planar cell polarity; ciliopathy
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Funding
- Intramural NIH HHS [Z01 HG000215] Funding Source: Medline
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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. (C) 2017 Wiley Periodicals, Inc.
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