Linkage analysis of the X chromosome in Rett syndrome

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Although most cases are sporadic, Rett syndrome (RS) is considered a genetic disorder, because there have been few familial cases and there is striking concordance in MZ twins. The concept of X linkage initially based on a presumed exclusive incidence in females has been supported by maternal lineage transmission in rare familial cases. To determine any gene loci on the X chyomosome in RS,thirteen of the X chromosome micro satellite markers were chosen for multipoint linkage analysis. We found no significant high Lod score. Maternal inheritance discoverd in familial cases has fueled the hypothesis that a genetic basis for RS may involve mitochondrial DNA (mtDNA). We have undertaken a detailed mutation analysis of the gene coding. We found no evidence for large delections, and no evidence of point mutations in mtDNA.