Question: What are the genetic changes related to X-linked spondyloepiphyseal dysplasia tarda ?
Answer: Mutations in the TRAPPC2 gene (often called the SEDL gene) cause X-linked spondyloepiphyseal dysplasia tarda. The TRAPPC2 gene provides instructions for producing the protein sedlin. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). Because sedlin is active (expressed) in cells throughout the body; it is unclear why mutations in the TRAPPC2 gene affect only bone growth.
Source: GHR

Question: What are the treatments for X-linked spondyloepiphyseal dysplasia tarda ?
Answer: These resources address the diagnosis or management of X-linked spondyloepiphyseal dysplasia tarda: - Gene Review: Gene Review: X-Linked Spondyloepiphyseal Dysplasia Tarda - Genetic Testing Registry: Spondyloepiphyseal dysplasia tarda These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR