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On the genetics of rett syndrome: Analysis of family and pedigree data

1986; Wiley; Volume: 25; Issue: S1 Linguagem: Inglês

10.1002/ajmg.1320250538

1096-8628

W. Killian, John M. Opitz, James F. Reynolds,

Genomic variations and chromosomal abnormalities

Pedigree studies of 220 Rett syndrome cases (218 isolated cases, one family with affected half sisters and one family with affected sisters) tested 5 monogenic hypotheses, taking account of apparently absolute gynecotropy and healthy parents. Without increased consanguinity we found a normal sex ratio among sibs; the rate of spontaneous abortions was not increased. There is also no increase in parental conceptional age. As the patients do not propagate, transmission of a supposed gene could not be observed. The results are compatible with either an autosomal dominant mutation with complete sex limitation or (more likely) an X-chromosomal dominant mutation with lethality to the males. As the probability for 2 affected sisters in one sibship differs considerably from the real incidence, alternative models should be taken into consideration and may be tested by linkage analysis.