DEAF1 autosomal dominant


Chen L,et al. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype Hum Mutat. 2017; 38(12):1774-1785. PMID: 28940898.

Berger SI, et al. Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. Hum Genet. 2017; 136(4):409-420. PMID:28213671.

Wenger AM, et al. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genet Med. 2017; 19(2):209-214. PMID:27441994.

Vulto-van Silfhout AT, et al. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014; 94(5):649-661. PMID: 24726472.

Rauch A, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012; 380(9854):1674-1682. PMID: 23020937.

Vissers LE, et al. A de novo paradigm for mental retardation. Nat Genet. 2010; 42(12):1109-1112. PMID: 21076407.

Nabais Sá MJ et al. De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genet Med. 2019;21(9):2059-2069.  PMID: 30923367.

Where can parents get more information about DEAF1-related intellectual disability?

You may meet other families with DEAF1-related intellectual disability via the DEAF1 Facebook group (