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Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation

Saideh Rajaei1, Anna Erlandson, Marten Kyllerman

  • 1Department of Medical and Clinical Genetics, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden.

Journal of Child Neurology
|January 8, 2011
PubMed

Insights

Early infantile Rett syndrome, a rare neurological disorder, can be caused by MECP2 gene mutations. This study identified a large deletion in MECP2 in Swedish girls, highlighting the need for comprehensive genetic testing.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Rett syndrome is a neurodevelopmental disorder with various clinical presentations.
  • Early infantile onset Rett syndrome (EI-Rett) is a severe variant characterized by early behavioral deviations.
  • Genetic factors, including MECP2 and CDKL5 gene mutations, are implicated in Rett syndrome.

Purpose of the Study:

  • To investigate the genetic basis of early infantile onset Rett syndrome in a cohort of Swedish girls.
  • To perform genotype-phenotype correlation studies for MECP2 and CDKL5 genes in patients with EI-Rett syndrome.
  • To assess the diagnostic utility of MECP2 and CDKL5 mutation analysis in atypical EI-Rett variants.

Main Methods:

  • Clinical-genetic study of 14 Swedish girls diagnosed with early infantile onset Rett syndrome.
  • Diagnosis based on symptom onset before 6 months, fulfilling specific Rett variant and supportive criteria.
  • Mutation analysis of both the MECP2 and CDKL5 genes.

Main Results:

  • A large deletion spanning two exons in the MECP2 gene was identified in one patient.
  • No patients in this cohort carried previously identified hotspot mutations in the MECP2 gene.
  • This finding underscores the importance of screening for MECP2 mutations, including deletions, in atypical EI-Rett cases.

Conclusions:

  • Comprehensive MECP2 mutation screening, including deletions, is crucial for diagnosing early infantile onset Rett syndrome variants.
  • The study highlights genetic heterogeneity in EI-Rett syndrome, extending beyond common MECP2 mutations.
  • Genetic analysis plays a vital role in understanding and diagnosing complex neurodevelopmental disorders like Rett syndrome.

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