Otospondylomegaepiphyseal dysplasia
OMIM:215150Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | COL11A2 |
|---|---|
| Reference transcript | NM_080680.2 |
| DNA Change | c.2492C>A |
| A.A. Change | p.Ser831X |
| Exon/Intron | exon 33 |
| Mutation Type | substitution |
| Reference | Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kaariainen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet. 2000 Feb;66(2):368-77. |