Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa

Investigative Ophthalmology & Visual Science
Li Jia ChenChi Pui Pang

Abstract

Purpose. To evaluate the phenotypic effects of two novel frameshift mutations in the RP1 gene in a Chinese pedigree of autosomal recessive retinitis pigmentosa (ARRP). Methods. Family members of a proband with ARRP were screened for RP1, RHO, NR2E3, and NRL mutations by direct sequencing. Detected RP1 mutations were genotyped in 225 control subjects. Since one family member with the RP1 deletion mutation in exon 2 was found to have age-related macular degeneration (AMD) but not RP, exons 2 and 3 of RP1 were screened in 120 patients with exudative AMD. Major AMD-associated SNPs in the HTRA1 and CFH genes were also investigated. Results. Two novel frameshift mutations in RP1, c.5_6delGT and c.4941_4942insT, were identified in the pedigree. They were absent in 225 control subjects. Family members who were compound heterozygous for the nonsense mutations had early-onset and severe RP, whereas those with only one mutation did not have RP. No mutations in RHO, NR2E3, and NRL were identified in the pedigree. Subject I:2 with AMD carried both at-risk genotypes at HTRA1 rs11200638 and CFH rs800292. No mutation in RP1 exons 2 and 3 was identified in 120 AMD patients. Conclusions. This report is the first to associate ARRP with compound h...Continue Reading

Citations

Feb 27, 2013·Oman Journal of Ophthalmology·Karthikeyan A SadagopanAlex V Levin
Apr 18, 2015·The British Journal of Ophthalmology·Thomas ChassineChristian P Hamel
Feb 19, 2015·BioMed Research International·Sachiko KikuchiHiroshi Takahashi
Feb 10, 2018·Genetic Testing and Molecular Biomarkers·Shujin LiXianjun Zhu
May 28, 2019·International Journal of Molecular Sciences·Michalitsa DiakatouVasiliki Kalatzis
Dec 14, 2019·Ophthalmic Genetics·Maan Abdullah AlbarrySulman Basit
May 13, 2019·The British Journal of Ophthalmology·Marina RieraEsther Pomares
Feb 2, 2020·Scientific Reports·Rita Sousa SilvaJuliana Maria Ferraz Sallum
Jul 22, 2018·Documenta Ophthalmologica. Advances in Ophthalmology·Kentaro KurataYoshihiro Hotta
Mar 27, 2019·Investigative Ophthalmology & Visual Science·Sanne K VerbakelKoji M Nishiguchi

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