title: Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
abstract: We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. The association of congenital ocular motor apraxia and juvenile nephronophthisis is reviewed. The patient does not currently manifest signs of renal failure, although her mutation indicates that she is at risk for the development of juvenile nephronophthisis type 1.
authors.affiliation: Department of Ophthalmology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA.
authors.forename: Brita S
authors.initials: BS
authors.lastname: Deacon
authors.forename: R Scott
authors.initials: RS
authors.lastname: Lowery
authors.forename: Paul H
authors.initials: PH
authors.lastname: Phillips
authors.forename: G Bradley
authors.initials: GB
authors.lastname: Schaefer
mesh_terms: D000015:Abnormalities, Multiple; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001072:Apraxias / Q000151:congenital; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities; D055952:Cogan Syndrome / Q000175:diagnosis / Q000235:genetics*; D003598:Cytoskeletal Proteins; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D012160:Retina / Q000002:abnormalities*; D014792:Visual Acuity
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human