What causes Nicolaides-Baraitser syndrome?
Nicolaides-Baraitser syndrome is caused by a genetic change (mutation) in a gene called SMARCA2. Genes act as the instructions for the body. We have two copies of each gene - one copy is inherited from each parent. A mutation can cause a gene to not work properly. Nicolaides-Baraitser syndrome happens when a person has a mutation in one copy of the SMARCA2 gene. All reported cases of Nicolaides-Baraitser syndrome have been caused by a new change (mutation) in the SMARCA2 gene that did not come from either parent.
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Why does a gene change cause Nicolaides-Baraitser syndrome?
Genes act as the instructions for the body. The SMARCA2 gene gives the body instructions on how to make one part of a substance in the body (protein complex). This protein complex interacts with other genes to change how active they are. If a gene is very active, it will make lots of product. If it is turned off, it cannot make product. Changes to SMARCA2 can turn off other genes and alter how much of other gene products are made. These changes alter the body's instructions and can lead to many health problems.