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Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene by Kim E. Nichols; Monisa D. Houseknecht; Lynn Godmilow; Greta Bunin; Carol Shields; Anna Meadows; Arupa Ganguly is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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Retinoblastoma (RB) is a neoplasm of retinal origin caused by mutations in RB1, the retinoblastoma tumor suppressor gene. To facilitate genetics counseling and patient management, we adopted a multistep molecular screening assay for detecting RB1 mutations. This assay included DNA sequencing to identify mutations within coding exons and immediate flanking intronic regions, Southern blot analysis to characterize genomic rearrangements, and transcript analysis to characterize potential splicing mutations buried within introns. In a pilot investigation of 180 patients from North America, we identified germline RB1 mutations in 77 out of 85 bilateral RB patients (91%), 7 out of 10 familial unilateral (70%), and 6 out of 85 unilateral patients with no family history of RB (7%). Mutations included 36 novel alterations spanning the entire RB1 gene. Seven of these novel changes were missense or silent mutations. Sequence analysis predicted that, in five out of seven cases, the changes can cause aberrant splicing. This was confirmed by transcript analysis in four out of five cases. In addition, four intronic point mutations within nonconsensus sites activated cryptic splice sites. Without t

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Author

Kim E. Nichols; Monisa D. Houseknecht; Lynn Godmilow; Greta Bunin; Carol Shields; Anna Meadows; Arupa Ganguly

Publisher

Hindawi Limited

Published

2005

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)