Which gene is associated with Muenke Syndrome?

Muenke Syndrome is primarily associated with mutations in the FGFR3 gene. This genetic condition is a form of craniosynostosis, which is characterized by the premature fusion of certain skull bones, leading to various skull and facial shape changes. FGFR3 (Fibroblast Growth Factor Receptor 3) is crucial in the regulation of bone growth and development. When mutations occur in this gene, they can disrupt normal signaling pathways that govern skeletal development, resulting in the features seen in Muenke Syndrome.

The other genes mentioned do have important roles in different genetic conditions. RAB23 is associated with Carpenter syndrome, TWIST1 is linked to Saethre-Chotzen syndrome, and FGFR2 is involved in various forms of craniosynostosis, but it is not specifically linked to Muenke Syndrome in the same way that FGFR3 is. Therefore, FGFR3 is the most relevant gene associated with the development of Muenke Syndrome.