Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
17p13.3
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613982.1.1 | United Arab Emirates | Male | Yes | Yes | Fractures of the long bones; Vertebral c... Fractures of the long bones; Vertebral compression fracture; Reduced bone mineral density; Blue sclerae; Short stature; Inability to walk  | NM_002615.7:c.696C>G | Homozygous | Autosomal, Recessive | Becker et al. 2011 | |
| 613982.1.2 | United Arab Emirates | Male | Yes | Yes | Fractures of the long bones; Vertebral c... Fractures of the long bones; Vertebral compression fracture; Reduced bone mineral density; Blue sclerae; Short stature; Inability to walk | NM_002615.7:c.696C>G | Homozygous | Autosomal, Recessive | Becker et al. 2011 | Brother of 613982.1.... |
| 613982.2.1 | Saudi Arabia | Male | Yes | Yes | Recurrent fractures; Kyphosis; Osteopeni... Recurrent fractures; Kyphosis; Osteopenia; Vertebral compression fracture | NM_002615.7:c.653del | Homozygous | Autosomal, Recessive | Shaheen et al. 2012; Maddirevula et al. 2018 | |
| 613982.2.2 | Saudi Arabia | Male | Yes | Yes | Recurrent fractures; Kyphosis; Osteopeni... Recurrent fractures; Kyphosis; Osteopenia; Vertebral compression fracture | NM_002615.7:c.653del | Homozygous | Autosomal, Recessive | Shaheen et al. 2012; Maddirevula et al. 2018 | Relative of 613982.2... |
| 613982.3 | Saudi Arabia | Female | Yes | Recurrent fractures; Delayed gross motor... Recurrent fractures; Delayed gross motor development | NM_002615.7:c.653del | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | ||
| 613982.G.1 | Saudi Arabia | Yes | Yes | Recurrent fractures; Blue sclerae Recurrent fractures; Blue sclerae | NM_002615.7:c.1118_1119del | Homozygous | Autosomal, Recessive | Shaheen et al. 2012 | Two patients from fa... | |
| 613982.G.2 | Saudi Arabia | Yes | Yes | Recurrent fractures; Blue sclerae Recurrent fractures; Blue sclerae | NM_002615.7:c.-9+2dup | Homozygous | Autosomal, Recessive | Shaheen et al. 2012 | Two patients from fa... |