Radial dysplasiaGene: DACT1
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 and cupped ears. One family member (probands mother) noted as having scoliosis and Spina bifida occulta. Listed in Decipher v9.17 some cases with Intellectual disability and microcephaly. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1 there is no information relating specifically to DACT1 and Radial dysplasia, since thumb abnormalities were not observed in the family with Townes-Brocks syndrome 2 (PMID: 28054444).
Created: 17 Aug 2017, 12:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
?Townes-Brocks syndrome 2,617466; TBS2
DACT1 was created by LouiseD
DACT1 was added to Radial dysplasiapanel. Sources: Other,Literature