The ADGRL1-related syndrome is caused by a mutation in the ADGRL1gene. A gene (i.e. a small piece of our genetic code or DNA) acts like an instruction manual to assemble amino acids in the correct order to build a protein. Proteins are essential structures that help form and maintain the proper functioning of our body.
If you think of the ADGRL1gene as a sentence made up of letters, a genetic variant is like omitting a letter or changing one letter for another — which alters the meaning or makes the sentence unreadable. This kind of change disrupts the information carried by the ADGRL1gene, making it only partly functional or non-functional.
The ADGRL1 protein plays a critical role in brain development and neuronal activity. Changes in the ADGRL1gene therefore interfere with these important functions.
ADGRL1