title: Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family.
abstract: The molecular defect of one large consanguineous Iranian kindred with Leber Congenital Amaurosis (LCA) is presented. The phenotype mapped to 17p13.1 (LCA1) and excluded from five other LCA loci. Sequence analysis of the GUCY2D gene identified a novel homozygous missense mutation (I816S) that segregated with the inherited disease-haplotype in six affected, eight parents, and two normal gene carriers. This mutation was absent in three other normal family members and 92 normal control subjects. In silico analysis predicted that alteration of the highly conserved isoleucine residue at position 816 to serine is deleterious by affecting secondary structure of the GUCY2D protein.
authors.affiliation: Molecular Ophthalmic Genetics Laboratory, Department of Surgery, University of Connecticut Health Center, Farmington, Connecticut 06030-1110, USA.
authors.forename: Tayebeh
authors.initials: T
authors.lastname: Rezaie
authors.forename: Mohammad-Hassan
authors.initials: MH
authors.lastname: Karimi-Nejad
authors.forename: Mohammad-Reza
authors.initials: MR
authors.lastname: Meshkat
authors.forename: Saeed
authors.initials: S
authors.lastname: Sohbati
authors.forename: Roxana
authors.initials: R
authors.lastname: Karimi-Nejad
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Mansoor
authors.initials: M
authors.lastname: Sarfarazi
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D002886:Chromosomes, Human, Pair 17; D003241:Consanguinity; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006162:Guanylate Cyclase / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007492:Iran; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000737:chemistry / Q000235:genetics; D017386:Sequence Homology, Amino Acid
chemical_list: D011956:Receptors, Cell Surface; C110715:guanylate cyclase 1; D006162:Guanylate Cyclase