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Identification and functional characterization of a novel splicing mutation in RP gene PRPF31 |
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| Authors: | Liu Jing Yu Dai Xiaohua Sheng Jiqun Cui Xin Wang Xu Jiang Xueqing Tu Xin Tang Zhaohui Bai Yan Liu Mugen Wang Qing K |
| Institution: | a Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, 1037 Luoyu Road, Wuhan 430074, PR China b Maternal and Child Health Clinic of Tanghe, Tanghe, 473600 Henan, PR China c Huazhong University of Science and Technology Hospital, Wuhan 430074, PR China d Eye Hospital of Nanyang, Nanyang, 473000 Henan, PR China e Department of Molecular Cardiology, The Cleveland Clinic, Cleveland, OH 44195, USA |
| Abstract: | A six-generation Chinese family with autosomal dominant retinitis pigmentosa (adRP) was identified and characterized. Genome-wide linkage analysis linked the family to markers D19S601 to D19S605, which span the PRPF31 gene on chromosome 19q13.33-13.43 (RP11) (LOD = 5.03). Direct DNA sequence analysis identified a novel splicing mutation (IVS1+1G>T) in affected family members and carriers, but not in unaffected family members and 200 normal controls. The splicing mutation occurs at the splicing donor of intron 1. Real time PCR with lymphoblastoid RNA samples from family members showed that in comparison to normal family members, the splicing mutation reduced the expression level of the PRPF31 mRNA by 57% in symptomatic patients and by 28% in clinically asymptomatic carriers. Our studies identify a novel splicing mutation in PRPF31 associated with adRP and suggest that the penetrance of RP11 mutations may be correlated with the expression level of the PRPF31 mRNA. |
| Keywords: | Autosomal dominant retinitis pigmentosa PRPF31 Splicing mutation Genetics Linkage |
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