title: Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
abstract: Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and are responsible for a congenital severe stationary cone-rod dystrophy (Type I, 60% of LCA) while the seven remaining genes account for 32% of patients and are responsible for a progressive yet severe rod-cone dystrophy (Type II, 40% of LCA ). Recently, mutations in LCA5, encoding the ciliary protein lebercilin, were reported to be a rare cause of leber congenital amaurosis. The purpose of this study was to evaluate the involvement of this novel gene and to look for genotype-phenotype correlations. Here we report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in our series (3/179; 1.7%). Besides, we suggest that the phenotype of these patients affected with a particularly severe form of LCA type II may represent a continuum with LCA type I.
authors.affiliation: INSERM U781 et Service de Génétique, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Gerber
authors.forename: Sylvain
authors.initials: S
authors.lastname: Hanein
authors.forename: Isabelle
authors.initials: I
authors.lastname: Perrault
authors.forename: Nathalie
authors.initials: N
authors.lastname: Delphin
authors.forename: Nisrine
authors.initials: N
authors.lastname: Aboussair
authors.forename: Corinne
authors.initials: C
authors.lastname: Leowski
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dufier
authors.forename: Olivier
authors.initials: O
authors.lastname: Roche
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
mesh_terms: D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype
chemical_list: D005136:Eye Proteins; C522405:LCA5 protein, human; D008869:Microtubule-Associated Proteins