Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.
The hypothesis of germinal mosaicism in the unaffected mother of two half-sisters affected with Rett syndrome is postulated to explain the unusual recurrence of this genetic disorder affecting only females (1/10,000); it might be caused by new X-linked mutations with lethality in male fetuses. The analysis of 34 X-linked restriction fragment length polymorphisms (RFLPs) in these two affected females and in their unaffected mother and half-brother, together with the reconstruction of phase for 15 informative RFLPs in somatic cell hybrids retaining a single X chromosome from each female, has made it possible to exclude some regions of the X chromosome as possible sites of the mutation(s) causing Rett syndrome.
Archidiacono
N
N
Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Italy.
Lerone
M
M
Rocchi
M
M
Anvret
M
M
Ozcelik
T
T
Francke
U
U
Romeo
G
G
D002460:Cell Line; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015518:Rett Syndrome / Q000235:genetics*; D014960:X Chromosome