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Short stature

Broad thumbs and toes

Eye abnormalities

Kidney and heart defects

Intellectual disabilities

Distinct facial features

(Image shows distinct facial features of an individual with Rubstein-Taybi syndrome - https://bjo.bmj.com/content/84/10/1177)

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Mutation in the gene encoding for the transcriptional coactivator CREB-binding protein  (CREBBP) The gene for this condition is mapped to chromosome 16p13.3.
In some cases, there is a mutation to another gene EP300 - this gene is important for development as it creates instructions for making a protein that helps regulate the control of other genes. (MedlinePlus, n.d.)
Individuals with a loss of function/mutation of the EP300 gene are thought to have milder symptoms of Rubinstein-Taybi syndrome, than those who have a deletion or mutation of the CREBBP gene.

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Online Mendelian Inheritance in Man (OMIM)

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180849 - RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 - RSTS;; RUBINSTEIN SYNDROME;; BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;; BROAD THUMB-HALLUX SYNDROME

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Image shows the gene affected - location 16p13.3 https://rtsfoundation2.weebly.com/

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Without a mutation, the CREBBP gene is responsible for regulating cell growth and division and normal development before birth.
If there is a deletion or mutation in this gene, the normal development does not occur as only half of the CREB-binding protein is made - this disrupts the development of the individual.

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AUTOSOMAL DOMINANT INHERITANCE
Only one version of the mutated gene is required to cause the condition.
The mutations for Rubinstein- Taybi syndrome tend to occur randomly within a family and are recognised as De Novo heterzygous mutations. This means that there is a mutation that occurs in an individual for the first time that has not been seen before in their parents, due to mutations in a germ cell from either parent.

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Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Explore symptoms, inheritance, genetics of this condition.

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Each year the condition affects around 1 in 100,000 to 125,000 babies each year.

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Online Mendelian Inheritance in Man (OMIM)

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180849 - RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 - RSTS;; RUBINSTEIN SYNDROME;; BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;; BROAD THUMB-HALLUX SYNDROME