title: Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.
abstract: OBJECTIVE
  To screen mutations in the retinitis pigmentosa 1 (RP1) gene and the rhodopsin (RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento (RPSP) and describe the genotype-phenotype relationship of the mutations.
  
  
  METHODS
  Twenty affected, unrelated Chinese individuals with RPSP (4 autosomal dominant RPSP, 12 autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012. The clinical features were determined by complete ophthalmologic examinations. Polymerase chain reaction (PCR) and direct DNA sequencing were used to screen the entire coding region and splice junctions of the RP1 gene and the RHO gene. The cosegregation analysis and population frequency studies were performed for patients with identified mutations.
  
  
  RESULTS
  Five variants in the RP1 gene and one in the RHO gene were detected in 20 probands. Four missense changes (rs444772, rs446227, rs414352, rs441800) and one non-coding variant (rs56340615) were common SNPs and none of them showed a significant relationship with RPSP. A missense mutation p.R1443W was identified in the RP1 gene in three affected individuals from a family with autosomal dominant RPSP and was found to cosegregate with the phenotype in this family, suggestive of pathogenic. In addition, population frequency analysis showed the p.R1443W mutation was absent in 300 healthy controls.
  
  
  CONCLUSIONS
  The identification of p.R1443W mutation cosegregating in a family with autosomal dominant RPSP highlights an atypical phenotype of the RP1 gene mutation, while RHO gene is not associated with the pathogenesis of RPSP in this study. To our knowledge, this is the fist mutation identified to associate with RPSP.
authors.affiliation: Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Yinchuan 750011, Ningxia Hui Autonomous Region, China.
authors.forename: Li
authors.initials: L
authors.lastname: Ma
authors.forename: Xun-Lun
authors.initials: XL
authors.lastname: Sheng
authors.forename: Hui-Ping
authors.initials: HP
authors.lastname: Li
authors.forename: Fang-Xia
authors.initials: FX
authors.lastname: Zhang
authors.forename: Ya-Ni
authors.initials: YN
authors.lastname: Liu
authors.forename: Wei-Ning
authors.initials: WN
authors.lastname: Rong
authors.forename: Jian-Ling
authors.initials: JL
authors.lastname: Zhang
keywords: RP1 and RHO gene; gene mutation; retinitis pigmentosa sine pigmento