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. 2022 Jun 22;13:909944. doi: 10.3389/fneur.2022.909944

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Copyright © 2022 Friedberg, Ramos, Yang, Bonham, Yokoyama, Ljubenkov, Younes, Geschwind and Miller.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Genetic findings. (A) A total of 68,272 variants were identified within the targeted exome. Variants of low quality were removed through quality control (GQ <20, RD <10, AF <0.25). Among a panel of 165 genes known to be associated with leukodystrophies and leukoencephalopathies, a total of 484 variants were identified, of which 77 were protein changing or splicing variants. Only 10 of these had an allele frequency <0.10 in gnomAD database, including a novel heterozygous missense variant in the CSF1R gene (B) This change in a highly conserved amino acid in the CSF1R tyrosine domain (p.Gly872Arg), was predicted to be deleterious by multiple in silico tools.