Chen L,et al. Functional analysis of novelDEAF1 variants identified through clinical exome sequencing expandsDEAF1-associated neurodevelopmental disorder (DAND) phenotypeHum Mutat. 2017; 38(12):1774-1785. PMID: 28940898.
Gund C, et al. Identification of asyndromecomprisingmicrocephaly andintellectualdisability but notwhitematterdiseaseassociated with a homozygous c.676C>T p.R226W DEAF1mutation.Am J Med Genet A. 2016; 170A(5):1330-1332. PMID:26834045.
Rajab A, et al. RecessiveDEAF1mutationassociates withautism,intellectualdisability,basalgangliadysfunction and epilepsy.J Med Genet. 2015; 52(9):607-611. PMID:26048982.
Faqeih EA, et al. NovelhomozygousDEAF1variantsuspected incausingwhitematterdisease,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.
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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/).