Article
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2021
Dworschak Gabriel C, Punetha Jaya, Kalanithy Jeshurun C, Mingardo Enrico, Erdem Haktan B, Akdemir Zeynep C, Karaca Ender, Mitani Tadahiro, Marafi Dana, Fatih Jawid M, Jhangiani Shalini N, Hunter Jill V, Dakal Tikam Chand, Dhabhai Bhanupriya, Dabbagh Omar, Alsaif Hessa S, Alkuraya Fowzan S, Maroofian Reza, Houlden Henry, Efthymiou Stephanie, Dominik Natalia, Salpietro Vincenzo, Sultan Tipu, Haider Shahzad, Bibi Farah, Thiele Holger, Hoefele Julia, Riedhammer Korbinian M, Wagner Matias, Guella Ilaria, Demos Michelle, Keren Boris, Buratti Julien, Charles Perrine, Nava Caroline, Héron Delphine, Heide Solveig, Valkanas Elise, Waddell Leigh B, Jones Kristi J, Oates Emily C, Cooper Sandra T, MacArthur Daniel, Syrbe Steffen, Ziegler Andreas, Platzer Konrad, Okur Volkan, Chung Wendy K, O'Shea Sarah A, Alcalay Roy, Fahn Stanley, Mark Paul R, Guerrini Renzo, Vetro Annalisa, Hudson Beth, Schnur Rhonda E, Hoganson George E, Burton Jennifer E, McEntagart Meriel, Lindenberg Tobias, Yilmaz Öznur, Odermatt Benjamin, Pehlivan Davut, Posey Jennifer E, Lupski James R, Reutter Heiko
Abstract excerpt
PURPOSE: To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b during development. METHODS: We assembled ten patients from seven families with biallelic or de novo PLXNA1 variants. We describe genotype-phenotype correlations, investigated the variants by...
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