title: [First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].
abstract: Leber congenital amaurosis (LCA) is a the earliest and most severe form of retinal dystrophy responsible for congenital blindness. LCA has genetic heterogeneity and the study of this disease is elucidating the genetics and molecular interactions involved in the development of the retina. To date, 11 LCA genes have been mapped, ten of which have been identified. The CEP290 gene has been shown to account for Joubert and Senior-Loken syndromes and to be a frequent cause of nonsyndromic LCA. We report here the first Arab patient, born to consanguineous parents, with Leber congenital amaurosis attributable to mutation of the CEP290 gene.
authors.affiliation: Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc. nisrineaboussair@yahoo.fr
authors.forename: N
authors.initials: N
authors.lastname: Aboussair
authors.forename: A
authors.initials: A
authors.lastname: Berahou
authors.forename: I
authors.initials: I
authors.lastname: Perrault
authors.forename: S Chafai
authors.initials: SC
authors.lastname: Elalaoui
authors.forename: A
authors.initials: A
authors.lastname: Megzari
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
authors.forename: A
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000951:Antigens, Neoplasm / Q000235:genetics*; D018912:Arabs / Q000235:genetics; D001483:Base Sequence / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D002874:Chromosome Mapping; D003241:Consanguinity; D003598:Cytoskeletal Proteins; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D018740:Genetic Heterogeneity; D006720:Homozygote; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000175:diagnosis / Q000235:genetics*; D009018:Morocco; D009363:Neoplasm Proteins / Q000235:genetics*; D009759:Nystagmus, Pathologic / Q000235:genetics; D010375:Pedigree; D020795:Photophobia / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins