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.
Gund C, et al. Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. Am J Med Genet A. 2016; 170A(5):1330-1332. PMID:26834045.
Rajab A, et al. Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. J Med Genet. 2015; 52(9):607-611. PMID:26048982.
Faqeih EA, et al. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. Am J Med Genet A. 2014; 164A(6):1565-70. PMID:24668509.
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 (https://www.facebook.com/groups/DEAF1support/).