Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia (GDD; MIM 166260) is an autosomal dominant generalized skeletal syndrome. It is also known as osteogenesis imperfecta with unusual skeletal lesions. GDD is characterized by cementoosseous lesions of the jawbones that can cause facial deformity, jaw infections, osteopenia, bone fractures, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones.
Gnathodiaphyseal dysplasia (GDD; MIM 166260) is an autosomal dominant generalized skeletal syndrome. It is also known as osteogenesis imperfecta with unusual skeletal lesions. GDD is characterized by cementoosseous lesions of the jawbones that can cause facial deformity, jaw infections, osteopenia, bone fractures, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones. GDD is caused by mutations in the ANO5 gene, which codes for anoctamin 5. ANO5 mutations have also been reported in two autosomal recessive muscular dystrophies: muscular dystrophy, limb-girdle, type 2L (LGMD2L; MIM 611307) and Miyoshi muscular dystrophy 3 (MMD3; MIM 613319).
Gene(s)
Disease Group
MIM
Methodology
Billing
Ordering
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
