title: Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.
abstract: Congenital ocular motor apraxia type Cogan is characterized by impairment of horizontal voluntary eye movements, ocular attraction movements, and optokinetic nystagmus. Two patients with congenital ocular motor apraxia type Cogan exhibited a newly recognized association with nephronophthisis type 1, an autosomal recessive kidney disease. Both patients possess large deletions of the NPHP1 gene. The deletion occurred on both chromosomes 2q13 in one patient and heterozygously in combination with a point mutation of the NPHP1 gene in the other. The findings will help to elucidate the pathogenetic processes involved.
authors.affiliation: University Children's Hospital, Freiburg University, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Betz
authors.forename: C
authors.initials: C
authors.lastname: Rensing
authors.forename: E
authors.initials: E
authors.lastname: Otto
authors.forename: A
authors.initials: A
authors.lastname: Mincheva
authors.forename: D
authors.initials: D
authors.lastname: Zehnder
authors.forename: P
authors.initials: P
authors.lastname: Lichter
authors.forename: F
authors.initials: F
authors.lastname: Hildebrandt
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D000328:Adult; D001072:Apraxias / Q000150:complications / Q000235:genetics*; D003598:Cytoskeletal Proteins; D006801:Humans; D007621:Karyotyping; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D015835:Ocular Motility Disorders / Q000150:complications / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D018909:src Homology Domains / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D011506:Proteins