Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review

Autor: Hui Zhu, Shuyao Zhu, Qiong Jiang, Ying Pang, Yu Huang, Yan Chen, Ting Hou, Wenxin Deng, Xingyu Liu, Lan Zeng, Ai Chen, Jin Wang, Zemin Luo

Publikováno v: Frontiers in Neurology, Vol 14 (2023)

Vulto-van Silfhout-de Vries syndrome (VSVS; MIM 615828) is an extremely rare autosomal dominant disorder with unknown incidence. It is always caused by de novo heterozygous pathogenic variants in the DEAF1 gene, which encodes deformed epidermal autor

Externí odkaz: https://doaj.org/article/e92e9a891cf844a092b587c549eac628

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De novo and biallelic DEAF1 variants cause a phenotypic spectrum

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

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2059-2069. ⟨10.1038/s41436-019-0473-6⟩
Genetics in Medicine, 21, 2059-2069
Genetics in Medicine, 21, 9, pp. 2059-2069
Genetics in Medicine, 2019, 21 (9), pp.2059-2069. ⟨10.1038/s41436-019-0473-6⟩
Genetics in medicine, 21(9), 2059-2069. Lippincott Williams and Wilkins
Genetics in Medicine, 21(9), 2059-2069. Lippincott Williams and Wilkins

International audience; 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6ac3ba8289bdf5efd925159aab4fd9f
https://doi.org/10.1038/s41436-019-0473-6