title: Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
abstract: OBJECTIVE
  To identify disease-causing mutations and describe genotype-phenotype correlations in Thai patients with nonsyndromic retinitis pigmentosa (RP).
  
  
  METHODS
  Whole exome sequencing was performed in 20 unrelated patients. Eighty-six genes associated with RP, Leber congenital amaurosis, and cone-rod dystrophy were analyzed for variant detection.
  
  
  RESULTS
  Seventeen variants (13 novel and 4 known) in 13 genes were identified in 11 patients. These variants include 10 missense substitutions, 2 nonsense mutations, 3 deletions, 1 insertion, and 1 splice site change. Nine patients with identified inheritance patterns carried a total of 10 potentially pathogenic mutations located in genes CRB1, C8orf37, EYS, PROM1, RP2, and USH2A. Three of the nine patients also demonstrated additional heterozygous variants in genes ABCA4, GUCY2D, RD3, ROM1, and TULP1. In addition, two patients carried variants of uncertain significance in genes FSCN2 and NR2E3. The RP phenotypes of our patients were consistent with previous reports.
  
  
  CONCLUSIONS
  This is the first report of mutations in Thai RP patients. These findings are useful for genotype-phenotype comparisons among different ethnic groups.
authors.affiliation: Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Worapoj
authors.initials: W
authors.lastname: Jinda
authors.forename: Todd D
authors.initials: TD
authors.lastname: Taylor
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Wanna
authors.initials: W
authors.lastname: Thongnoppakhun
authors.forename: Chanin
authors.initials: C
authors.lastname: Limwongse
authors.forename: Patcharee
authors.initials: P
authors.lastname: Lertrit
authors.forename: Prapat
authors.initials: P
authors.lastname: Suriyaphol
authors.forename: Adisak
authors.initials: A
authors.lastname: Trinavarat
authors.forename: La-ongsri
authors.initials: LO
authors.lastname: Atchaneeyasakul
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D012174:Retinitis Pigmentosa / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D013785:Thailand / Q000453:epidemiology
chemical_list: D005136:Eye Proteins; D004247:DNA
keywords: genotype–phenotype correlations; mutation screening; retinitis pigmentosa; whole exome sequencing