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  • Title: Sex mutation ratio in retinoblastoma and retinoma: relevance to genetic counseling.
    Author: Munier FL, Thonney F, Balmer A, Héon E, Pescia G, Schorderet DF.
    Journal: Klin Monbl Augenheilkd; 1996 May; 208(5):400-3. PubMed ID: 8766064.
    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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