Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento

·AIM: To screen mutations in the (RP1) gene and the rhodopsin(RHO) gene in Chinese patients with retinitis pigmentosa (RPSP) and describe the genotype-phenotype relationship of the mutations. · METHODS: Twenty affected, unrelated Chinese individuals with RPSP (4 autosomal dominant RPSP, 12 autosomal...

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Published in:国际眼科杂志：英文版 2013 (4), p.430-435
Main Author: LiMa Xun-Lun Sheng Hui-Ping Li Fang-Xia Zhang Ya-Ni Liu Wei-Ning Rong Jian-Ling Zhang
Format: Article
Language:English
Subjects:
and
gene
mutation
pigmento
pigmentosa
retinitis
RHO
RP1
sine
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Summary:·AIM: To screen mutations in the (RP1) gene and the rhodopsin(RHO) gene in Chinese patients with retinitis pigmentosa (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 gene and the gene. The cosegregation analysis and population frequency studies were performed for patients with identified mutations. ·RESULTS: Five variants in the gene and one in the 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 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. ·CONCLUSION: The identification of p.R1443W mutation cosegregating in a family with autosomal dominant RPSP highlights an atypical phenotype of the 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.
ISSN:2222-3959
2227-4898