Rubinstein-Taybi syndrome by Charlotte https://padlet.com/charlp/gq7at4grkceo6awn en-us 2021-03-15 10:18:53 UTC 2024-10-14 09:56:59 UTC hello@padlet.com Causes charlp https://padlet.com/charlp/gq7at4grkceo6awn/wish/1309925528 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.]]> 2021-03-15 10:23:54 UTC https://padlet.com/charlp/gq7at4grkceo6awn/wish/1309925528 How is the syndrome recognised? charlp https://padlet.com/charlp/gq7at4grkceo6awn/wish/1309944792
  • 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)
    ]]>     2021-03-15 10:30:46 UTC https://padlet.com/charlp/gq7at4grkceo6awn/wish/1309944792     What does the CREBBP gene do? charlp https://padlet.com/charlp/gq7at4grkceo6awn/wish/1309948938 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.]]>     2021-03-15 10:32:14 UTC https://padlet.com/charlp/gq7at4grkceo6awn/wish/1309948938     Mode of inheritance charlp https://padlet.com/charlp/gq7at4grkceo6awn/wish/1309989366 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.]]>     2021-03-15 10:46:31 UTC https://padlet.com/charlp/gq7at4grkceo6awn/wish/1309989366     How common is the condition? charlp https://padlet.com/charlp/gq7at4grkceo6awn/wish/1310017334 Each year the condition affects around 1 in 100,000 to 125,000 babies each year. ]]> 2021-03-15 10:56:56 UTC https://padlet.com/charlp/gq7at4grkceo6awn/wish/1310017334 charlp https://padlet.com/charlp/gq7at4grkceo6awn/wish/1310035606 Image shows the gene affected - location 16p13.3 https://rtsfoundation2.weebly.com/]]> 2021-03-15 11:03:44 UTC https://padlet.com/charlp/gq7at4grkceo6awn/wish/1310035606