What is SOX11 gene?
What is SOX11 gene?
The SOX11 gene provides instructions for making a protein that plays a critical role in the development of the brain and nerve cells (neurons). This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and coordinates with other proteins to turn on particular genes.
Is Coffin Siris syndrome hereditary?
Inheritance. Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
What is the life expectancy of someone with Coffin-Lowry syndrome?
Current literature reports life expectancy as a mean of 20.5 years. Cardiopulmonary compromise is a frequent cause of death and would be significantly affected by their progressive kyphosis.
What are the symptoms of Coffin-Siris syndrome?
Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities.
Is mantle cell lymphoma a type of leukemia?
Mantle cell lymphoma (MCL) is a type of non-Hodgkin’s lymphoma, which is a form of cancer that affects the lymphatic system. Lymphomas are cancers that involve white blood cells, and can be divided depending on the type of cell involved, either B-lymphocytes or T-lymphocytes.
What are the physical symptoms of Coffin-Lowry syndrome?
Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities.
Is Coffin-Lowry a neurological disease?
Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities….
| Coffin–Lowry syndrome | |
|---|---|
| Specialty | Medical genetics |
What is the life expectancy of a person with hypertrichosis?
Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes.
What is the life expectancy of someone with mantle cell lymphoma?
Mantle cell lymphoma is considered a fairly aggressive type of NHL, with the average survival of less than 3 years however the use of newer precision cancer medicines, stem cell transplant and immunotherapy continues to improve outcomes.
How long do people with mantle cell lymphoma live?
Most people respond well to their first round of chemotherapy. Often, they go an average of 20 months without their cancer getting worse. If you have mantle cell lymphoma, you can expect to live about 8 to 10 years, but you can live for 20 or more.
