Article
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2019
Nabais Sá Maria J, Jensik Philip J, McGee Stacey R, Parker Michael J, Lahiri Nayana, McNeil Evan P, Kroes Hester Y, Hagerman Randi J, Harrison Rachel E, Montgomery Tara, Splitt Miranda, Palmer Elizabeth E, Sachdev Rani K, Mefford Heather C, Scott Abbey A, Martinez-Agosto Julian A, Lorenz Rüdiger, Orenstein Naama, Berg Jonathan N, Amiel Jeanne, Heron Delphine, Keren Boris, Cobben Jan-Maarten, Menke Leonie A, Marco Elysa J, Graham John M, Pierson Tyler Mark, Karimiani Ehsan Ghayoor, Maroofian Reza, Manzini M Chiara, Cauley Edmund S, Colombo Roberto, Odent Sylvie, Dubourg Christele, Phornphutkul Chanika, de Brouwer Arjan P M, de Vries Bert B A, Vulto-vanSilfhout Anneke T
Abstract excerpt
PURPOSE: To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro. METHODS: We assembled a cohort of 23 patients with de novo and biallelic DEAF1 variants, described the genotype-phenotype correlation, and investigated the differential effect of de novo and recessive variants on transcription assays...
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