De novo and biallelic DEAF1 variants cause a phenotypic spectrum View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-03-29

AUTHORS

Maria J. Nabais Sá, Philip J. Jensik, Stacey R. McGee, Michael J. Parker, Nayana Lahiri, Evan P. McNeil, Hester Y. Kroes, Randi J. Hagerman, Rachel E. Harrison, Tara Montgomery, Miranda Splitt, Elizabeth E. Palmer, Rani K. Sachdev, Heather C. Mefford, Abbey A. Scott, Julian A. Martinez-Agosto, Rüdiger Lorenz, Naama Orenstein, Jonathan N. Berg, Jeanne Amiel, Delphine Heron, Boris Keren, Jan-Maarten Cobben, Leonie A. Menke, Elysa J. Marco, John M. Graham, Tyler Mark Pierson, Ehsan Ghayoor Karimiani, Reza Maroofian, M. Chiara Manzini, Edmund S. Cauley, Roberto Colombo, Sylvie Odent, Christele Dubourg, Chanika Phornphutkul, Arjan P. M. de Brouwer, Bert B. A. de Vries, Anneke T. Vulto-vanSilfhout

ABSTRACT

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 using DEAF1 and Eif4g3 promoter luciferase constructs. RESULTS: The proportion of the most prevalent phenotypic features, including intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold, were not significantly different in patients with biallelic and pathogenic de novo DEAF1 variants. However, microcephaly was exclusively observed in patients with recessive variants (p < 0.0001). CONCLUSION: We propose that different variants in the DEAF1 gene result in a phenotypic spectrum centered around neurodevelopmental delay. While a pathogenic de novo dominant variant would also incapacitate the product of the wild-type allele and result in a dominant-negative effect, a combination of two recessive variants would result in a partial loss of function. Because the clinical picture can be nonspecific, detailed phenotype information, segregation, and functional analysis are fundamental to determine the pathogenicity of novel variants and to improve the care of these patients. More... »

PAGES

1-11

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-019-0473-6

DOI

http://dx.doi.org/10.1038/s41436-019-0473-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1113060632

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30923367


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