Mutations in COL1A1 and COL1A2 are associated with osteogenesis imperfecta (OI) types I, II, III, and IV and Ehlers Danlos syndrome arthrochalasia type also known as types VIIA and VIIB (EDS VIIA and VIIB). Both conditions are inherited in an autosomal dominant manner.
EDS VIIA/B is characterized by congenital hip dislocation, extreme joint laxity, recurrent joint subluxations, and minimal skin involvement typically velvety, hyperextensible skin. Other possible features include short stature, mild bone fragility leading to fractures, kyphoscoliosis, hypotonia, and delayed gross motor skills.
This laboratory performs Sanger sequencing of the COL1A2 gene.