Kleefstra syndrome is a rare genetic disorder caused by a point mutation in the EHMT1 gene. This gene is responsible for producing a protein that helps regulate the activity of other genes. The point mutation results in a decrease in the amount of this protein, which can lead to a variety of physical and cognitive symptoms.

The most common symptoms of Kleefstra syndrome due to a point mutation include intellectual disability, delayed development, speech and language delays, autism spectrum disorder, seizures, hypotonia, facial dysmorphism, and behavioral problems. Other symptoms may include hearing loss, vision problems, heart defects, and skeletal abnormalities.

Kleefstra syndrome is caused by a point mutation in the EHMT1 gene. This gene is responsible for producing a protein called euchromatin histone methyltransferase 1, which is involved in the regulation of gene expression. The point mutation in the EHMT1 gene results in a decrease in the amount of this protein, leading to the development of Kleefstra syndrome.

Treatment for Kleefstra syndrome due to a point mutation is largely supportive and symptomatic. Treatment may include physical, occupational, and speech therapy to help with motor and communication skills. Medications may be prescribed to help with seizures, sleep disturbances, and behavioral issues. Other treatments may include dietary modifications, vitamin and mineral supplements, and genetic counseling.

1. Parental consanguinity (relatedness)
2. Advanced parental age
3. Maternal exposure to certain environmental toxins
4. Genetic predisposition
5. Unbalanced chromosomal rearrangements
6. De novo point mutations in the EHMT1 gene

At this time, there is no cure for Kleefstra syndrome due to a point mutation. However, there are medications and therapies that can help manage the symptoms of the disorder. These include medications to help with seizures, muscle spasms, and sleep disturbances, as well as physical, occupational, and speech therapies.