Exon 24-25 deletion of RB1 in a four-generation low-penetrance retinoblastoma family
- Univ. of Toronto and Visible Genetics, Inc., Ontario (Canada); and others
The majority of RB1 mutations that lead to retinoblastoma result in absent of truncated protein, deleted for the domains shown to be important in binding of the protein to transcription factors and to viral transforming proteins. Promoter and missense mutations have been identified in the uncommon retinoblastoma families with low penetrance and expressivity. We have found an exon 24-25 deletion of RB1 in a large family with four affected generations but low penetrance (only 50% of deletion-carriers develop tumors), expressivity (only 30% of affected are bilateral), and one member with retinoma. The deletion was found by screening of exons in genomic DNA using quantitative PCR amplification comparing to a control chromosome and sample monosomic, diploid and trisomic for RB1. Prenatal diagnosis was possible based on recognition of the deletion. Since this deletion is sufficient to cause retinoblastoma, these exons must be important to the tumor suppressor function of the protein.
- OSTI ID:
- 133490
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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