Rett syndrome: pathology

Evidence-based neurology checklist on rett syndrome: pathology: Genetics This is caused by mutations in the MECP2 gene on chromosome Xq28 MECP2 codes for a DNA binding protein which is a transcriptional repressor The transmission is X-linked dominant Atypical cases may be caused by mutations in…

Genetics

  • This is caused by mutations in the MECP2 gene on chromosome Xq28
  • MECP2 codes for a DNA binding protein which is a transcriptional repressor
  • The transmission is X-linked dominant
  • Atypical cases may be caused by mutations in the CDKL5 gene
  • GABBR2 gene mutations may also modify disease expression
  • There may be sporadic paternal germ line mutations

Stages

References

  1. Zanni G, Bertini ES. X-linked disorders with cerebellar dysgenesis. Orphanet J Rare Dis 2011; 6:24.
  2. Weaving L, Ellaway C, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet 2005; 42:1-7.
  3. Marco EJ, Skuse DH. Autism-lessons from the X chromosome. SCAN 2006; 1:183–193.
  4. Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8:61-65.
  5. Yoo Y, Jung J, Lee YN, et al. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Ann Neurol 2017; 82:466-478. 
  6. And 1 more. Subscribe to see the full list

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