title: Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.
abstract: OBJECTIVE
  To determine the spectrum and frequency of rhodopsin gene (RHO) mutations in Korean patients with retinitis pigmentosa (RP) and to characterize genotype-phenotype correlations in patients with mutations.
  
  
  METHODS
  The RHO mutations were screened by direct sequencing, and mutation prevalence was measured in patients and controls. The impact of missense mutations to RP was predicted by segregation analysis, peptide sequence alignment, and in silico analysis. The severity of disease in patients with the missense mutations was compared by visual acuity, electroretinography, optical coherence tomography, and kinetic visual field testing.
  
  
  RESULTS
  Five heterozygous mutations were identified in six of 302 probands with RP, including a novel mutation (c.893C>A, p.A298D) and four known mutations (c.50C>T, p.T17M; c.533A>G, p.Y178C; c.888G>T, p.K296N; and c.1040C>T, p.P347L). The allele frequency of missense mutations was measured in 114 ethnically matched controls. p.A298D, newly identified in a sporadic patient, had never been found in controls and was predicted to be pathogenic. Among the patients with the missense mutations, we observed the most severe phenotype in patients with p.P347L, less severe phenotypes in patients with p.Y178C or p.A298D, and a relatively moderate phenotype in a patient with p.T17M.
  
  
  CONCLUSIONS
  The results reveal the spectrum of RHO mutations in Korean RP patients and clinical features that vary according to mutations. Our findings will be useful for understanding these genetic spectra and the genotype-phenotype correlations and will therefore help with predicting disease prognosis and facilitating the development of gene therapy.
authors.affiliation: Center for Genome Science, National Institute of Health, Chungcheongbuk-do, Korea.
authors.forename: Kwang Joong
authors.initials: KJ
authors.lastname: Kim
authors.forename: Cinoo
authors.initials: C
authors.lastname: Kim
authors.forename: Jeong
authors.initials: J
authors.lastname: Bok
authors.forename: Kyung-Seon
authors.initials: KS
authors.lastname: Kim
authors.forename: Eun-Ju
authors.initials: EJ
authors.lastname: Lee
authors.forename: Sung Pyo
authors.initials: SP
authors.lastname: Park
authors.forename: Hum
authors.initials: H
authors.lastname: Chung
authors.forename: Bok-Ghee
authors.initials: BG
authors.lastname: Han
authors.forename: Hyung-Lae
authors.initials: HL
authors.lastname: Kim
authors.forename: Kuchan
authors.initials: K
authors.lastname: Kimm
authors.forename: Hyeong Gon
authors.initials: HG
authors.lastname: Yu
authors.forename: Jong-Young
authors.initials: JY
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D004596:Electroretinography; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D056910:Republic of Korea; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D012720:Severity of Illness Index; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: D012243:Rhodopsin