Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal dominant
11p15.5
Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610967.1 | Saudi Arabia | Male | Yes | Recurrent fractures Recurrent fractures  | NM_001025295.3:c.-14C>T | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | De novo mutation | |
| 610968.2 | Saudi Arabia | Female | Yes | Recurrent fractures; Osteopenia; Scoliosis Recurrent fractures; Osteopenia; Scoliosis | NM_001025295.3:c.-14C>T | Heterozygous | Autosomal, Dominant | Maddirevula et al. 2018 | De novo mutation |