The analysis of monozygotic twins MZ concordant for neurofibromatosis type 1 NF1 has indicated that genetic factors exert a major influence on the clinical variability e. Here, we report on a pair of monozygotic, dichorionic twins who are phenotypically discordant with respect to NF1. The observation of heterozygosity for flanking SNP and microsatellite markers rendered it most unlikely that the observed mosaicism with normal cells was due to mutation reversion brought about either by gene conversion or mitotic recombination. Instead, we conclude that the twinning event, which would have taken place within three days post-fertilization, must have preceded the c. This is the first reported case of monozygotic twins discordant for NF1 in whom mosaicism for a postzygotic NF1 gene mutation has been observed in the affected but not the unaffected twin. Abstract The analysis of monozygotic twins MZ concordant for neurofibromatosis type 1 NF1 has indicated that genetic factors exert a major influence on the clinical variability e. Substances Neurofibromin 1.
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