X inactivation in Rett syndrome: A preliminary study showing partial preferential inactivation of paternal X with the M27{beta} probe
- Laboratoire de Genetique, Vandoeuvre les Nancy (France)
Rett syndrome (RS) is a severe progressive neurological disorder occurring exclusively in females. Most cases are sporadic. The few familial cases (less than 1%) cannot be explained by a simple mode of inheritance. Several hypotheses have been proposed: X-linked male lethal mutation, maternal uniparental disomy, fresh mutation on the X chromosome, involvement of mitochondrial DNA and differential inactivation with metabolic interference of X-borne alleles. The authors have examined the pattern of X inactivation in 10 affected girls who were selected according to the clinical criteria previously described and accepted by the French Rett Scientific Committee. The X inactivation pattern was studied by analysis of methylation at the hypervariable locus DXS255 with the M27{beta} probe. The results show a more-or-less skewed inactivation of paternal X in 8 Rett females, and 2 cases of symmetrical inactivation. In control girls, inactivation was symmetrical cases and the maternal X has been preferentially inactivated in the other 2 cases. In no case was a total skewed inactivation observed. Though there was clear evidence for a preferential paternal X inactivation that was statistically significant further studies are necessary to establish a relationship between X inactivation pattern and Rett syndrome.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 86548
- Journal Information:
- American Journal of Medical Genetics, Vol. 50, Issue 3; Other Information: PBD: 15 Apr 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?