title: Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype.
abstract: OBJECTIVE
  To screen for possible disease-causing mutations in the CRX gene in Chinese patients with Leber congenital amaurosis (LCA) and to enrich the understanding of its mutational phenotype.
  
  
  METHODS
  Genomic DNA was collected from 27 patients with LCA. The coding sequences of the CRX gene were analyzed using the PCR-heteroduplex-SSCP method. Mutations were confirmed by DNA sequencing.
  
  
  RESULTS
  We identified two heterozygous variations in the CRX gene in two patients with LCA. One was a deletion (GCC-->-CC, A181D1bp) leading to a frameshift and protein truncation. This mutation was present in a patient with LCA, but not in his healthy parents. The ocular manifestations of this A181Delta1bp mutation are described. An intronic variation (IVS1-13G-->C) was found in a patient with LCA as well as in his healthy father.
  
  
  CONCLUSIONS
  A heterozygous A181D1bp mutation in the CRX gene caused an LCA phenotype in a Chinese patient.
authors.affiliation: Ocular Genetics and Molecular Biology, Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou, China. zoczgj@gzsums.edu.cn
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
authors.forename: S
authors.initials: S
authors.lastname: Li
authors.forename: X
authors.initials: X
authors.lastname: Guo
authors.forename: L
authors.initials: L
authors.lastname: Guo
authors.forename: X
authors.initials: X
authors.lastname: Xiao
authors.forename: X
authors.initials: X
authors.lastname: Jia
authors.forename: Z
authors.initials: Z
authors.lastname: Kuang
mesh_terms: D044466:Asian People; D001766:Blindness / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002681:China / Q000453:epidemiology; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D005451:Fluorescein Angiography; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein; D004247:DNA