Skeletal dysplasia

Gene: DACT1

Red List (low evidence)

Gene added from New gene/phenotype relationship(s) cataloged in OMIM. In PMID: 28054444 Webb et al. (2017) 6 affected members of a 3-generation family with Townes-Brocks syndrome-2, identified heterozygosity for a nonsense mutation in the DACT1 gene that segregated fully with disease. Clinical Features include imperforate anus, rectovaginal fistula, crossed fused renal ectopia, vesicoureteral reflux, unilateral microtia, Overfolded helices, cupped ears, One family member (probands mother) noted as having scoliosis and Spina bifida occulta.

Created: 17 Aug 2017, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Townes-Brocks syndrome 2,617466; TBS2

Publications

• 28054444
• 22610794
• 19701191