Which gene is commonly associated with Autosomal Dominant Stickler Syndrome?

Stickler Syndrome is primarily characterized by vitreoretinal degeneration, hearing loss, and skeletal abnormalities, and it is categorized into different types based on genetic mutations. The gene most commonly associated with the Autosomal Dominant form of Stickler Syndrome is COL2A1. This gene encodes type II collagen, which is an essential component of cartilaginous tissues and the vitreous body of the eye.

Mutations in the COL2A1 gene lead to the characteristic features seen in Stickler Syndrome, such as issues related to growth and structure in connective tissues. This is why recognizing the association between the COL2A1 gene and Autosomal Dominant Stickler Syndrome is pivotal for understanding the genetic basis of the disorder and for the clinical assessment and management of affected individuals.

The other genes listed, while associated with different conditions or subtypes of syndromes, do not primarily relate to Autosomal Dominant Stickler Syndrome. For example, COL4A5 mutations are associated with Alport Syndrome, MYO7A is linked to Usher Syndrome, and SLC26A4 mutations are connected with Pendred Syndrome. These associations emphasize the importance of specific genes in the diagnosis and classification of genetic disorders.