What causes Rubinstein syndrome?
What causes Rubinstein syndrome?
The syndrome may be caused by a mutation in the CREBBP or EP300 gene , or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16.
What gene is mutated among people with RTS?
A mutation of the CREBP gene on chromosome 16 gives rise to the first form of RTS (most common). While a mutation of the EP300 gene on chromosome 22 is characteristic of the second form of RTS.
What is RTS in kids?
Rubinstein-Taybi Syndrome (RTS) is a genetic multi-system disorder characterized by facial abnormalities, broad thumbs and great toes, and developmental disability.
What is RTS syndrome?
Rubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.
What is Rubenstein syndrome?
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.
What kind of genetic defects are found in RTS?
RTS is a rare condition. Defects in the genes CREBBP and EP300 are seen in some people with this condition. Some people are missing the gene entirely. This is more typical in people with more severe problems. Most cases are sporadic (not passed down through families).
Can a mutation in RTS be inherited from a parent?
While RTS can be inherited in an autosomal dominant manner, most cases result from a new ( de novo) mutation in the responsible gene and are not inherited from a parent. Treatment is symptomatic and supportive. [1] [2] [3] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person.
How is Rubinstein Taybi syndrome different from RSTS?
This syndrome is characterized by unique facial features, low birth weight, normal head circumference, short stature, and bone age delay that normalizes between ages 6-12 years old. There may also be severe language impairments. Hand and foot findings are distinct from those of RSTS.
How is Rothmund Thompson syndrome ( RTS ) inherited?
Rothmund-Thompson syndrome is a genetic disorder that is inherited in an autosomal recessive pattern. Approximately 2/3 of individuals with RTS are found to have an abnormality (mutation) in the RECQL4 gene.