FKBP14 mutations lead to loss of the FKBP22 protein usually due to mutations causing nonsense-mediated decay of the mRNA, and loss of FKBP22 causes a broad spectrum of clinical phenotypes, including progressive kyphoscoliosis, joint hypermobility, muscle hypotonia, hyperelastic skin, hearing loss, and aortic rupture [24,25]. The gene discussed is FKBP14; the disease is Kyphoscoliosis.