Multiple Epiphyseal Dysplasia

Gene: COL2A1

Comment on mode of inheritance: Not on the imprinted gene list.

Created: 5 Feb 2016, 3:11 p.m.

Comment on list classification: Demoted from green to red due to reviewer comments.

Created: 5 Feb 2016, 3:10 p.m.

Red List (low evidence)

Most COL2A1-related phenotypes involve the spine in the dysplasia and have more than just epiphyseal involvement-apart from isolated bilateral necrosis of the capital femoral epiphyses which is distinct from MED.

Created: 2 Dec 2015, 10:47 a.m.

Mode of pathogenicity
Other

Red List (low evidence)

Phenotype associated with COL2A1 does not sit within MED, as Skeletal involvement is more extensive beyond the epiphyses.

Created: 2 Dec 2015, 10:44 a.m.

Mode of pathogenicity
Other

Red List (low evidence)

Mutations in COL2A1 have been reported in two families with a non-typical form of MED. Both mutations affected conserved glycine residues and are located in exon 50 (p.Gly1179Arg and p.Gly1176Val). In both families it was noted that there were features not normally associated with MED such as short trunk and severely fragmented hip epiphyses with adjacent metaphyseal anomalies. This would suggest that there is some clinical and radiographic overlap between MED and mild SED congenital (SEDc).

Created: 9 Oct 2015, 10:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multiple epiphyseal dysplasia

Publications

• PMID: 21922596

Mode of pathogenicity
Other