Sensenbrenner syndrome
OMIM:218330Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | IFT43 |
|---|---|
| Reference transcript | NM_052873.2 |
| DNA Change | c.1A>G |
| A.A. Change | p.MET1VAL |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R.C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011 Jun;48(6):390-5. |