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RettBASE: Rett syndrome database update.

Rahul Krishnaraj1, Gladys Ho1,2, John Christodoulou1,2,3,4

  • 1NSW Centre for Rett Syndrome Research, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.

Human Mutation
|May 26, 2017
PubMed
Summary

Rett syndrome is a neurodevelopmental disorder caused by mutations in MECP2, CDKL5, and FOXG1 genes. RettBASE is a comprehensive database that tracks these genetic variants to aid in diagnosis and care.

Keywords:
CDKL5FOXG1MECP2Rett syndromedatabaselocus-specific databasemutationphenotype-genotype correlations

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Area of Science:

  • Genetics
  • Neuroscience
  • Bioinformatics

Background:

  • Rett syndrome (RTT) is a significant X-linked neurodevelopmental disorder primarily affecting females.
  • Mutations in MECP2 are the primary genetic cause, with CDKL5 and FOXG1 mutations also implicated but often considered distinct entities.
  • Current treatments focus on symptom management, highlighting the need for precise genetic diagnosis.

Purpose of the Study:

  • To describe the development and expansion of RettBASE, a specialized variant database for RTT.
  • To provide a centralized, curated resource for genetic variants associated with RTT and related phenotypes.
  • To support the swift identification of mutations crucial for therapeutic care.

Main Methods:

  • Database creation and curation starting in 2001.
  • Systematic collection and organization of genetic variants from MECP2, CDKL5, and FOXG1 genes.
  • Ongoing growth and maintenance of the RettBASE resource.

Main Results:

  • RettBASE has evolved into a comprehensive repository for RTT-related genetic variants.
  • The database currently houses 4,668 variants in the MECP2 gene.
  • It also contains 498 variants in CDKL5 and 64 variants in FOXG1.

Conclusions:

  • RettBASE serves as a vital resource for researchers and clinicians studying Rett syndrome and related disorders.
  • The database facilitates understanding of the genetic landscape of RTT, aiding in diagnosis and potential therapeutic strategies.
  • The continued growth of RettBASE underscores its importance in advancing the study and management of these complex neurodevelopmental conditions.