TY - JOUR
T1 - CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
AU - NISC Comparative Sequencing Program
AU - Vilboux, Thierry
AU - Malicdan, May Christine V.
AU - Roney, Joseph C.
AU - Cullinane, Andrew R.
AU - Stephen, Joshi
AU - Yildirimli, Deniz
AU - Bryant, Joy
AU - Fischer, Roxanne
AU - Vemulapalli, Meghana
AU - Mullikin, James C.
AU - Steinbach, Peter J.
AU - Gahl, William A.
AU - Gunay-Aygun, Meral
N1 - Publisher Copyright:
© 2017 Wiley Periodicals, Inc.
PY - 2017/3/1
Y1 - 2017/3/1
N2 - 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.
AB - 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.
KW - CELSR2
KW - Joubert syndrome
KW - ciliopathy
KW - planar cell polarity
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U2 - 10.1002/ajmg.a.38005
DO - 10.1002/ajmg.a.38005
M3 - Article
C2 - 28052552
AN - SCOPUS:85010189207
SN - 1552-4825
VL - 173
SP - 661
EP - 666
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -