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Rett syndrome: North American database.

Alan K Percy1, Jane B Lane, Jerry Childers

  • 1Civitan International Research Center, University of Alabama at Birmingham, 35294-0021, USA. apercy@uab.edu

Journal of Child Neurology
|January 5, 2008
PubMed
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The International Rett Syndrome Association database details 1928 individuals with Rett syndrome or MECP2 mutations. It categorizes diagnoses, mutation types, and frequencies, aiding future research and clinical trials.

Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Rett syndrome is a rare neurodevelopmental disorder.
  • MECP2 gene mutations are the primary cause of Rett syndrome.
  • Comprehensive data on MECP2 mutations and Rett syndrome phenotypes are crucial for research.

Purpose of the Study:

  • To establish the first comprehensive North American database for individuals with Rett syndrome or MECP2 mutations.
  • To analyze the distribution of diagnoses, mutation types, and frequencies within this cohort.
  • To provide a resource for understanding Rett syndrome and facilitating future clinical research.

Main Methods:

  • Compilation of data from 1928 participants in the International Rett Syndrome Association North American database.
  • Categorization of participants by diagnosis (typical Rett, atypical Rett, Not Rett syndrome) and MECP2 mutation status.

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  • Analysis of mutation types (missense, nonsense, deletions, truncations) and their frequencies.

    • Main Results:

    • The database includes 1928 participants: 85.5% typical Rett, 13.4% atypical Rett, 1.1% non-Rett with MECP2 mutations.
    • MECP2 mutations were identified in 86% of participants with available mutation data (914/1059).
    • Missense mutations (39.0%) were most common, followed by nonsense mutations (35.1%). Common mutations like T158M and R106W were documented, alongside large deletions (6.4%) and C-terminal truncations (8.8%).

    Conclusions:

    • The International Rett Syndrome Association North American database is a valuable resource for Rett syndrome research.
    • Data analysis reveals key insights into MECP2 mutation types and their association with Rett syndrome phenotypes.
    • This database will support comparative studies and the organization of future clinical trials for Rett syndrome therapies.