Another model for the inheritance of Rett syndrome.
The fact that probably less than 1% of Rett syndrome cases are familial speaks in favor of a spontaneous mutation as the most common cause of Rett syndrome. However, the few familial cases (about 10) described in the literature, the elevated consanguinity rate in parents of Rett patients (2.4% vs. 0.5%), and the existence of "formes frustes" in relatives of Rett girls, suggest that inheritance must exist. A model based on a hypothetical form of inheritance, namely allelic and non-allelic metabolic interference, fits almost all available data, as well as the exclusive occurrence in females without increased abortion rate.
Bühler
E M
EM
Department of Genetics, Basel University Children's Hospital, Switzerland.
Malik
N J
NJ
Alkan
M
M
D000483:Alleles; D003241:Consanguinity; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics*; D014960:X Chromosome