Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
17q21.33
COL1A1 is commonly associated with Ehlers-Danlos Syndrome (EDS) phenotype inherited in an autosomal dominant pattern caused by heterozygous variants. However, in rare instances, patients with homozygous variants in COL1A1 gene have been shown to display EDS-like phenotype. This EDS-like phenotype inherited in an autosomal recessive fashion is characterised by skin and joint laxity, hypotonia, craniofacial dysmorphism and absent reflexes.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 120150.1 | Saudi Arabia | Male | Yes | Joint hypermobility; Wormian bones; Abno... Joint hypermobility; Wormian bones; Abnormal facial shape; Cutis laxa; Blue sclerae; Neonatal respiratory distress; Hypotonia; Persistent head lag; Brachycephaly  | NM_000088.4:c.2050G>A | Homozygous | Autosomal, Recessive | Alazami et al, 2016 | ||
| 120150.2 | Saudi Arabia | Female | Yes | Joint hypermobility; Abnormal facial sha... Joint hypermobility; Abnormal facial shape; Cutis laxa; Blue sclerae; Neonatal respiratory distress; Hypotonia; Osteopenia | NM_000088.4:c.2050G>A | Homozygous | Autosomal, Recessive | Alazami et al, 2016 | ||
| 120150.3 | Saudi Arabia | Female | No | Motor delay; Hypotonia; Hip dysplasia Motor delay; Hypotonia; Hip dysplasia | NM_000088.4:c.2050G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 | Patient's parents ar... |