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...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 36; no. 1; p. 126
Main Authors Bühler, E M, Malik, N J, Alkan, M
Format Journal Article
LanguageEnglish
Published United States 01.05.1990
Subjects
Alleles
Consanguinity
Female
Genotype
Humans
Male
Models, Genetic
Mutation
Phenotype
Rett Syndrome - genetics
X Chromosome
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Summary: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.
ISSN:0148-7299
DOI:10.1002/ajmg.1320360125