Below is a summary for the KANSL1 gene observed in research publications. This is not meant to take the place of medical advice.
What is KANSL1-related syndrome?
KANSL1-related syndrome happens when there are changes to the KANSL1 gene. These changes can keep the gene from working as it should.
Some people have a change that affects only the KANSL1 gene. Other people are missing a larger piece of DNA that includes the KANSL1 gene.
KANSL1-related syndrome is also called 17q21 deletion syndrome because the KANSL1 gene is found on chromosome 17, one of the body’s 46 chromosomes. Both syndromes share the same set of symptoms. These syndromes are also known as Koolen-de Vries syndrome.
The KANSL1 gene helps control other genes during brain development.
Because the KANSL1 gene is important in the development and function of brain cells, many people who have KANSL1-related syndrome have:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Language issues
Do people with KANSL1-related syndrome look different?
People who have KANSL1-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Long face
- Pear-shaped nose with a round tip
- Large ears
- The opening between the eyelids may be narrow or slant upward
- Drooping eyelids
- A skin fold covering the inner corner of the eye
Everyone in the study that has KANSL1-related syndrome has developmental delay and intellectual disability. Intellectual disability is mild in 42 percent, moderate in 37 percent, and severe in 22%.
Most people who have KANSL1-related syndrome are sociable. 57 percent of those in the study have behavior issues. This includes autism, attention deficit hyperactivity disorder, shyness, anxiety or phobias, impulsive and repetitive behavior, psychosis, and depression.
86 percent of babies who have KANSL1-related syndrome have low muscle tone. This can lead to feeding challenges.
Research Article Summaries