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Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

✍ Scribed by Dietmar R. Lohmann; Birgit Brandt; Wolfgang Höpping; Eberhard Passarge; Bernhard Horsthemke

Book ID
104661191
Publisher
Springer
Year
1994
Tongue
English
Weight
706 KB
Volume
94
Category
Article
ISSN
0340-6717

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✦ Synopsis

The interfamilial diversity in penetrance and expressivity of hereditary retinoblastoma was investigated in 29 families. By using a simple parameter for estimating the severity of the disease (diseased-eye-ratio), we were able to identify four families with a discrete low-penetrance phenotype. The underlying genetic defect was identified in three families. One family has a 3-bp deletion in exon 16 that results in the deletion of Asn 48~ In two further unrelated families, the identical missense mutation at codon 661 in exon20 (CGG to TGG, Arg to Trp) was identified. These mutations are distinct from the majority of retinoblastoma gene alterations, as they do not result in the disruption of the gene product. We propose that reduced penetrance of retinoblastoma is the result of a residual function of these alleles in retinoblastoma precursor cells.

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