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Liping Yang; A mutation in Adiponectin receptor 1 causes autosomal-dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 2016;57(12):3139.
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© ARVO (1962-2015); The Authors (2016-present)
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder. Although more than 70 disease causing genes have been identified, it only accounted for about half of RP patients. In this study, our aim was to identify the disease causing mutation of a large, five-generation Chinese family with autosomal dominant retinitis pigmentosa.
Exome sequencing analysis was performed in five members of this family, and ten potential disease causing mutation were identified. Segregation analysis was done in the available family members and a large cohort of RP patients with Sanger sequencing. Cell transfection and Zebrafish Knock-down were carried out to verify the mutated protein’s function.
Exome variant filtering and prioritization led to the identification of a heterozygous mutation in AdipoR1 (c.929a>G; p. Y310C). Segregation analysis demonstrated that this variant was co-segregated with the disease phenotype in the available family members and absent in 200 normal controls. The mutated protein can’t localize to the cell membrane as wild type do, and morpholino knockdown of AdipoR1 in zebrafish produced a phenotype characteristic of retinitis pigmentosa, the knockdown phenotype can be corrected with coinjection of the wild-type AdipoR1 mRNA.
Our results demonstrated that AdipoR1 mutation caused adRP.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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