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Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

E K Schorry1, M Keddache, N Lanphear

  • 1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. elizabeth.schorry@cchmc.org

American Journal of Medical Genetics. Part A
|September 17, 2008
PubMed
Summary

Rubinstein-Taybi syndrome (RTS) involves CREBBP gene mutations. Phenotype similarities suggest involved genes act through a common pathway, impacting facial features, thumbs, and development.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability and distinctive physical features.
  • Loss-of-function mutations in CREBBP or EP300 genes are identified in approximately 50% of RTS patients.

Purpose of the Study:

  • To investigate genotype-phenotype correlations in Rubinstein-Taybi syndrome.
  • To analyze the impact of different CREBBP mutation types on patient phenotypes.

Main Methods:

  • Genomic DNA analysis of CREBBP gene (31 coding exons and junctions) in 93 RTS patients.
  • Fluorescence in situ hybridization (FISH) for large deletions in a subset of patients.
  • Detailed phenotypic data collection and correlation with mutation types (missense, truncating, splice-site, large deletions, no CREBBP mutation).

Main Results:

  • Sixty-four variations were found, with 52 patients (56%) having definitive CREBBP mutations (10 missense, 36 truncating/splice-site, 6 large deletions).
  • All groups showed characteristic facial and thumb abnormalities.
  • Growth retardation was more frequent in patients without CREBBP mutations, while seizures were more common with CREBBP mutations.

Conclusions:

  • Phenotypic similarity across different mutation groups suggests a shared downstream pathway for genes involved in RTS.
  • While specific phenotypes like growth and seizures correlate with mutation presence/type, overall intellectual disability and core features are consistent.
  • Further research into the common pathway is warranted.