A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype

John K. Cowell, Britta Bia

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

We have used single strand conformation polymorphism analysis to study the 27 exons of the RB1 gene in individuals from a family showing 'mild' expression of the retinoblastoma phenotype. In this family affected individuals developed unilateral tumors and, as a result of linkage analysts, unaffected mutation carriers were also identified within the pedigree. A single band shift using SSCP was identified in exon 21 which resulted in a missense mutation converting a cys→arg at nucleotide position 28 in the exon. The mutation destroyed an NdeI restriction enzyme site. Analysis of all family members demonstrated that the missense mutation co-segregated with patients with tumors or who, as a result of linkage analysts had been predicted to carry the predisposing mutation. These observations point to another region of the RB1 gene where mutations only modify the function of the gene and raise important questions for genetic counseling in families with these distinctive phenotypes.

Original languageEnglish (US)
Pages (from-to)3211-3213
Number of pages3
JournalOncogene
Volume16
Issue number24
DOIs
StatePublished - Jun 18 1998
Externally publishedYes

Keywords

  • Incomplete
  • Missense mutation
  • Penetrance
  • Retinoblastoma
  • SSCP

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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