What is the inheritance pattern of Diastrophic Dysplasia?

Diastrophic Dysplasia is characterized by an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to express the condition. The mutation typically occurs in the SLC26A2 gene, which is responsible for the encoding of a sulfate transporter that plays a critical role in cartilage and bone development.

In autosomal recessive conditions like Diastrophic Dysplasia, both parents are often carriers of the mutated gene but may not show any symptoms of the disorder themselves due to having one normal copy of the gene. The characteristic features of the disorder often present in affected individuals include short stature, joint deformities, and various skeletal abnormalities. Identification of the autosomal recessive inheritance pattern is important for genetic counseling, as it provides information about the risks for other siblings and future offspring of carriers.

Other inheritance patterns mentioned, such as autosomal dominant, X-linked, or arising due to de novo mutations, do not apply to Diastrophic Dysplasia, reinforcing the understanding of its genetic basis within the framework of autosomal recessive inheritance.