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Rubinstein-Taybi Syndrome (RSTS)

Rubinstein-Taibbi syndrome (RSTS), also known as broad thumb-hallux syndrome, is a rare genetic malformation syndrome. With a strong foundation in cutting-edge technology platforms and a team of highly skilled scientific researchers, our company is uniquely positioned to offer tailored solutions and extensive support for developing RSTS therapies, thereby accelerating your scientific research endeavors.

Overview of RSTS

RSTS is a relatively rare disorder characterized by developmental delays, distinctive facial features, intellectual disability, and wide thumbs and first toes. The birth prevalence of RSTS is estimated to be approximately 1 to 9 per 100,000 people. It affects men and women equally and has been reported in different ethnic groups around the world.

The exact causes of RSTS vary. Approximately 50-60% of cases are due to mutations or deletions in the CREB binding protein (CREBBP) gene located on chromosome 16p13.3. An additional 8-10% of cases are caused by mutations or deletions in the EP300 gene on chromosome 22q13.2. The proteins encoded by these genes play important roles as transcriptional coactivators. The genetic cause of the remaining cases is unknown.

Fig.1 Structure of CREBBP and EP300.Fig.1 Structure of CREBBP and EP300. (Van Gils, et al., 2021)

Diagnostics Development of RSTS

RSTS is typically diagnosed based on a combination of symptom assessment, physical examination, and genetic testing.

  • Symptom Assessment and Physical Examination
    The diagnosis of RSTS is primarily based on symptom assessment, and a thorough evaluation of personal history, family history, and physical examination findings is critical for an accurate diagnosis. X-ray studies may further support this diagnosis by showing skeletal deformities of the hands and feet that are characteristic of RSTS.
  • Genetic Testing
    Abnormalities in the CREBBP or EP300 genes can be detected by cytogenetic or molecular analyses. For example, genetic sequencing can identify mutations, deletions, or rearrangements in the genes associated with RSTS. Approximately 65% of individuals with RSTS have detectable cytogenetic or molecular abnormalities.

Therapeutics Development of RSTS

At present, there are no targeted or specific therapeutics available for RSTS. Instead, the management of RSTS primarily revolves around a combination of supportive care and symptomatic therapeutics approaches. The development of RSTS therapeutic drugs primarily hinges on extensive research into disease mechanisms and potential targets. The following are notable targets for the development of drug therapies for RSTS:

CREBBP and EP300

The CREBBP and EP300 genes, which are commonly affected in RSTS, play crucial roles in gene regulation and chromatin remodeling. Targeting these genes or their related pathways may offer potential therapeutic opportunities for RSTS.

Neurodevelopmental Pathways

Given the intellectual disability and behavioral characteristics associated with RSTS, targeting neurodevelopmental pathways may offer potential therapeutic avenues. Modulating neurodevelopmental pathways, such as the Wnt/β-catenin pathway, could be a viable approach for cognitive enhancement in RSTS.

Our Services

Drawing upon our deep expertise in biotechnology and extensive experience in the industry, our company offers all-encompassing solutions for diagnostic and therapeutic research dedicated to RSTS.

No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.


  • Van Gils, Julien, et al. "Rubinstein-Taybi syndrome: a model of epigenetic disorder." Genes 12.7 (2021): 968.
  • Menke, Leonie A., and Raoul CM Hennekam. "RUBINSTEIN–TAYBI SYNDROME." Cassidy and Allanson's Management of Genetic Syndromes (2021): 823-835.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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