Stickler syndrome, type IV
OMIM:614134Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | COL9A1 |
|---|---|
| Reference transcript | NM_001851.4 |
| DNA Change | c.883C>T |
| A.A. Change | p.Arg295X |
| Exon/Intron | exon 9 |
| Mutation Type | substitution |
| Reference | Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S.A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006 Sep;79(3):449-57. |