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Rett syndrome--search for genetic markers
American Journal of Medical Genetics. Supplement
|January 1, 1986
Summary
This study investigated the OTC structural gene in eight girls with Rett syndrome. No gross alterations were found in the OTC gene, suggesting it may not be the primary cause of Rett syndrome in these patients.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Rett syndrome is a complex neurodevelopmental disorder.
- Genetic factors are implicated in Rett syndrome.
- The OTC (ornithine transcarbamylase) gene is a potential candidate for investigation.
Purpose of the Study:
- To investigate the OTC structural gene for alterations in patients with Rett syndrome.
- To determine if mutations in the OTC gene are associated with Rett syndrome.
Main Methods:
- DNA analysis of white blood cells from eight girls with Rett syndrome.
- Comparison of patient DNA with DNA from normal control individuals.
- Investigation focused on the OTC structural gene.
Main Results:
- Eight girls diagnosed with Rett syndrome were studied.
- No gross alterations were identified in the OTC structural genes of the patients.
- The findings were compared to normal control individuals.
Conclusions:
- The OTC structural gene does not appear to harbor gross alterations in the studied Rett syndrome cohort.
- This suggests the OTC gene may not be a primary cause of Rett syndrome in these individuals.
- Further research into other genetic factors is warranted.