Geleophysic dysplasia 1
OMIM:231050Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | ADAMTSL2 |
|---|---|
| Reference transcript | NM_001145320.1 |
| DNA Change | c.338G>A |
| A.A. Change | c.Arg113His |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. |