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We ascertained three different families affected with oto-dental syndrome, a rare but severe autosomal-dominant craniofacial anomaly. All affected patients had the unique phenotype of grossly enlarged molar teeth (globodontia) segregating with a high-frequency sensorineural hearing loss. In addition, ocular coloboma segregated with disease in one family(More)
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes(3) (Retinal Information Network (RetNet)). Using exome sequencing we identified a homozygous missense mutation (c.25G>A, p.Val9Met) in(More)
PURPOSE Hereditary cataract is a clinically and genetically heterogeneous lens disorder that usually presents as a sight-threatening trait in childhood. The purpose of this study was to map and identify the mutation underlying an autosomal dominant form of coral-shaped cataract segregating in a three generation Caucasian pedigree. METHODS Genomic DNA was(More)
PURPOSE To report the clinical phenotype in patients with a retinal dystrophy associated with novel mutations in the MER tyrosine kinase (MERTK) gene. METHODS A consanguineous family of Middle Eastern origin was identified, and affected members underwent a full clinical evaluation. Linkage analysis was performed using the Affymetrix 50K chip. Regions of(More)
PURPOSE To identify patients with autosomal recessive retinal dystrophy caused by mutations in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype. METHODS After giving informed consent, all patients underwent full clinical evaluation. Patients were selected for mutation analysis based upon positive results from the Asper(More)
Many modern hydrological models require data inputs provided by automated digital terrain analysis functions incorporated into GIS. These inputs include elds representing surface ow directions, up-slope contributing areas, and sub-catchment partitions. Existing raster-based terrain analysis tools, including both those in oOE-the-shelf GIS packages and those(More)
Primary open-angle glaucoma (POAG) is a clinically important and genetically heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death. Here we have utilized trio-based, whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of adult-onset POAG segregating in an African-American family.(More)
Global information systems have the potential of providing decision makers with timely spatial information about earth systems. This information will come from diverse sources, including field monitoring, remotely sensed imagery, and environmental models. Of the three the latter has the greatest potential of providing regional and global scale information(More)
PURPOSE To describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene. METHODS A full genome scan of members of two consanguineous families segregating an autosomal recessive retinal dystrophy was performed and regions(More)