Mutations or deficiencies in LH1 can lead to several connective tissue disorders. One of the most well-known conditions is Ehlers-Danlos Syndrome Type VI, also known as the kyphoscoliotic type. This condition is characterized by hypermobile joints, fragile skin, and severe scoliosis. The deficiency in LH1 disrupts normal collagen formation, leading to weak and unstable connective tissues.
