Which genetic mutation is primarily associated with Walker-Warburg Syndrome?

Walker-Warburg Syndrome is primarily associated with mutations in the POMT1 and POMT2 genes. These genes are involved in the glycosylation process, which is crucial for the proper function of proteins within cells. Specifically, POMT1 and POMT2 encode for proteins that are part of a complex responsible for adding a sugar molecule to proteins, a process that is essential for normal muscle and brain development.

The mutations in POMT1 and POMT2 disrupt this critical glycosylation process, leading to the characteristic features of Walker-Warburg Syndrome, which include congenital muscular dystrophy and associated abnormalities in the brain and eyes. This syndrome is part of a group of disorders known as congenital muscular dystrophies, which often result from defects in components of the glycosylation pathway.

In the context of the other gene options, LMNA mutations are associated with various laminopathies, including muscular dystrophies and premature aging syndromes, but not Walker-Warburg Syndrome. PANK2 mutations are linked to Kufor-Rakeb syndrome, a form of juvenile-onset parkinsonism, while NF1 mutations are related to Neurofibromatosis type 1, which does not