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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
Human Mutation, Volume 31, No. 5, Year 2010
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Description
PRPF8-retinitis pigmentosa is said to be severe but there has been no overview of phenotype across different mutations. We screened RP patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation. This brings the known RP-causing mutations in PRPF8 to nineteen. We then collated clinical data from new and published cases to determine an accurate prognosis for PRPF8-RP. Clinical data for 75 PRPF8-RP patients were compared, revealing that while the effect on peripheral retinal function is severe, patients generally retain good visual acuity in at least one eye until the fifth or sixth decade. We also noted that prognosis for PRPF8-RP differs with different mutations, with p.H2309P or p.H2309R having a worse prognosis than p.R2310K. This correlates with the observed difference in growth defect severity in yeast lines carrying the equivalent mutations, though such correlation remains tentative given the limited number of mutations for which information is available. The yeast phenotype is caused by lack of mature spliceosomes in the nucleus, leading to reduced RNA splicing function. Correlation between yeast and human phenotypes suggests that splicing factor RP may also result from an underlying splicing deficit. ©2010 Wiley-Liss, Inc.
Authors & Co-Authors
Towns, Katherine V.
Unknown Affiliation
Kipioti, Athina
Unknown Affiliation
Long, Vernon
Unknown Affiliation
McKibbin, Martin Andrew
Unknown Affiliation
Maubaret, Cécilia
Unknown Affiliation
Vaclavik, Veronika
Unknown Affiliation
Ehsani, Parastoo
Unknown Affiliation
Springell, Kelly
Unknown Affiliation
Kamal, Mohamed
Unknown Affiliation
Ramesar, Rajkumar S.
Unknown Affiliation
Mackey, David A.
Unknown Affiliation
Moore, Anthony Tony
Unknown Affiliation
Mukhopadhyay, Rajarshi
Unknown Affiliation
Webster, Andrew R.
Unknown Affiliation
Black, Graeme C. M.
Unknown Affiliation
O'Sullivan, James
Unknown Affiliation
Bhattacharya, Shomi Shanker
Unknown Affiliation
Pierce, Eric A.
Unknown Affiliation
Beggs, Jean D.
Unknown Affiliation
Inglehearn, Chris F.
Unknown Affiliation
Statistics
Citations: 36
Authors: 20
Affiliations: 10
Identifiers
Doi:
10.1002/humu.21236
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Health System And Policy