Which gene is primarily implicated in Charcot Marie Tooth Syndrome?

Charcot-Marie-Tooth Syndrome (CMT) is primarily associated with mutations in the PMP22 gene. This gene encodes a protein that is essential for the normal function of the peripheral nervous system, particularly in the formation and maintenance of myelin sheaths around peripheral nerves. When mutations occur in PMP22, they can lead to demyelination or disruption of myelin integrity, contributing to the development of CMT.

CMT is a group of inherited disorders characterized by muscle weakness and atrophy, primarily affecting the arms and legs. The role of the PMP22 gene in this syndrome highlights the importance of myelin in proper nerve function. Mutations in this gene are responsible for a significant proportion of hereditary neuropathies associated with CMT, making it the most commonly implicated gene in this condition.

The other options listed (RAI1, TBX1, and FLCN) are associated with different genetic disorders, such as Prader-Willi syndrome, DiGeorge syndrome, and Birt-Hogg-Dubé syndrome, respectively. However, they are not linked to Charcot-Marie-Tooth syndrome, which underscores the specific role of PMP22 in the pathogenesis of this particular inherited neuropathy.