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. 1996 May;208(5):400-3.
doi: 10.1055/s-2008-1035252.

Sex mutation ratio in retinoblastoma and retinoma: relevance to genetic counseling

F L Munier  1 , F Thonney, A Balmer, E Héon, G Pescia, D F Schorderet
Affiliations

Sex mutation ratio in retinoblastoma and retinoma: relevance to genetic counseling

F L Munier et al. Klin Monbl Augenheilkd. 1996 May.

Abstract

Purpose and method: The parental origin of initial somatic and germline mutations (M1) in the retinoblastoma gene (RB1) was explored in 36 retinoblastoma (Rb) and 5 retinoma patients, of which 16 were presumably non-hereditary and 25 were hereditary. By this approach the male:female mutation ratio was determined by the gender quotient of mutation origin.

Results: The male to female mutation ratio in hereditary Rb was 19:2, which is consistent with a significant bias towards paternal origin of germline mutation. This ratio was of 5:2 in non-hereditary Rb which is not significant.

Discussion: Together with the published data, these results support a preferential paternal mutagenesis in hereditary Rb, but appear to reject paternal genomic imprinting at the RB1 locus as previously proposed in non-hereditary Rb. Genetic counseling in sporadic Rb may be substantially improved by the identification of the parental origin of initial mutation.

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