title: CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
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. © 2017 Wiley Periodicals, Inc.
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.|Inova Translational Medicine Institute, Falls Church, Virginia.
authors.forename: Thierry
authors.initials: T
authors.lastname: Vilboux
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.|NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
authors.forename: May Christine V
authors.initials: MC
authors.lastname: Malicdan
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Joseph C
authors.initials: JC
authors.lastname: Roney
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.|Department of Anatomy, Howard University College of Medicine, Washington DC.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Cullinane
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Joshi
authors.initials: J
authors.lastname: Stephen
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Deniz
authors.initials: D
authors.lastname: Yildirimli
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Joy
authors.initials: J
authors.lastname: Bryant
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Roxanne
authors.initials: R
authors.lastname: Fischer
authors.affiliation: NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Meghana
authors.initials: M
authors.lastname: Vemulapalli
authors.affiliation: NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: James C
authors.initials: JC
authors.lastname: Mullikin
authors.affiliation: NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.affiliation: Center for Molecular Modeling, Center for Information Technology, National Institutes of Health, Bethesda, Maryland.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Steinbach
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.|NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.|Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.affiliation: Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.|Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Meral
authors.initials: M
authors.lastname: Gunay-Aygun
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000483:Alleles; D015820:Cadherins / Q000737:chemistry / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008850:Microphthalmos / Q000235:genetics*; D008958:Models, Molecular; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation; D012160:Retina / Q000002:abnormalities*
chemical_list: C498477:CELSR2 protein, human; D015820:Cadherins; D019382:Human Growth Hormone
keywords: CELSR2; Joubert syndrome; ciliopathy; planar cell polarity