Abstract
Rett syndrome (RS) is a neurologic disorder with an exclusive incidence in females. A nonrandom X-inactivation could provide insight into the understanding of this disease. We performed molecular analysis based on the differential methylation of the active and inactive X with probe M27ß, taking into account the parental origin of the two Xs, in 30 control girls, 8 sisters, and 30 RS girls. In 27 control an 31 RS mothers, the inactivation status of the X transmitted to their daughters was also analyzed. The results showed a significantly increased frequency of partial paternal X inactivation (> 65%) in lymphocytes from 16/30 RS compared with 4/30 controls (P = 0.001). These results do not support the hypothesis of a monogenic X-linked mutation but should be taken into account when researching the etiology of this desease.
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Camus, P., Abbadi, N., Perrier, MC. et al. X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe. Hum Genet 97, 247–250 (1996). https://doi.org/10.1007/BF02265275
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DOI: https://doi.org/10.1007/BF02265275