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Inheritance and variable expression in Rubinstein-Taybi syndrome.

Oliver Bartsch1, Wolfram Kress, Olga Kempf

  • 1Institut für Humangenetik, Universitätsmedizin der Johannes-Gutenberg-Universität Mainz, Mainz, Germany. oliver.bartsch@unimedizin-mainz.de

American Journal of Medical Genetics. Part A
|August 5, 2010
PubMed
Summary
This summary is machine-generated.

Familial Rubinstein-Taybi syndrome (RTS) shows variable expression and somatic mosaicism due to novel CREBBP mutations. These factors contribute to RTS phenotypic variability and may increase recurrence risk.

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Area of Science:

  • Genetics
  • Human Diseases
  • Molecular Biology

Background:

  • Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder.
  • Familial inheritance of RTS is exceptionally uncommon.
  • Understanding genetic mechanisms in familial RTS is crucial for diagnosis and counseling.

Observation:

  • Reported are the 6th and 7th cases of inherited RTS across two families.
  • Family 1 exhibited variable expressivity of RTS over three generations.
  • Family 2 demonstrated classical RTS in three sisters and mild symptoms in their father, who had somatic mosaicism.

Findings:

  • A novel CREBBP missense mutation (c.2728A > G) was identified in Family 1, correlating with mild and variable RTS phenotypes.
  • A second novel CREBBP mutation (c.4134G > T) affecting splicing was found in Family 2, transmitted from a father with somatic mosaicism.
  • Somatic mosaicism in RTS may be more prevalent than previously thought, impacting inheritance patterns.

Implications:

  • Variable gene expression and somatic mosaicism are key contributors to RTS phenotypic diversity.
  • The recurrence risk for parents of an RTS child may be higher than previously estimated.
  • These findings highlight the importance of genetic testing and counseling for families with suspected inherited RTS.