Article
Expanded phenotype of AARS1-related white matter disease.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2021
Helman Guy, Mendes Marisa I, Nicita Francesco, Darbelli Lama, Sherbini Omar, Moore Travis, Derksen Alexa, Amy Pizzino, Carrozzo Rosalba, Torraco Alessandra, Catteruccia Michela, Aiello Chiara, Goffrini Paola, Figuccia Sonia, Smith Desiree E C, Hadzsiev Kinga, Hahn Andreas, Biskup Saskia, Brösse Ines, Kotzaeridou Urania, Gauck Darja, Grebe Theresa A, Elmslie Frances, Stals Karen, Gupta Rajat, Bertini Enrico, Thiffault Isabelle, Taft Ryan J, Schiffmann Raphael, Brandl Ulrich, Haack Tobias B, Salomons Gajja S, Simons Cas, Bernard Geneviève, van der Knaap Marjo S, Vanderver Adeline, Husain Ralf A
Abstract excerpt
PURPOSE: Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals with AARS1-related disease. METHODS: A cross-sectional survey was performed on individuals with biallelic variants in AARS1. Clinical data, neuroimaging, and genetic testing...
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