title: Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
abstract: To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome.
  
  
  METHODS
  Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L). Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes. Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c. 8441C > A, p.S2814). Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.
authors.affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Leen Abu
authors.initials: LA
authors.lastname: Safieh
authors.affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Humoud M
authors.initials: HM
authors.lastname: Al-Otaibi
authors.affiliation: Department of Ophthalmology, Medicine, Pediatrics, Molecular and Human Genetics, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Richard Alan
authors.initials: RA
authors.lastname: Lewis
authors.affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Igor
authors.initials: I
authors.lastname: Kozak
mesh_terms: D056769:Alstrom Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D018797:Cell Cycle Proteins; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D020125:Mutation, Missense; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D012160:Retina / Q000502:physiology*; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012529:Saudi Arabia
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins; D011956:Receptors, Cell Surface; C110715:guanylate cyclase 1; D006162:Guanylate Cyclase
keywords: Alström Syndrome; Congenital Retinal Dystrophy; Leber Congenital Amaurosis