Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case

Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case

ABSTRACT Background Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4‐year‐old boy presenting with psychomotor regression, spasticity, and dystonic postures. Methods and Results Trio‐based whole exome sequencing revealed two previously unrepor...

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Main Authors: Mar Jiménez de laPeña, Sara López‐Martín, Daniel Martín Fernández‐Mayoralas, Ana Laura Fernández‐Perrone, Ana Jiménez de Domingo, Pilar Tirado, Beatriz Calleja‐Pérez, Sara Álvarez, Jacobo Albert, Alberto Fernández‐Jaén
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cortical thickness
FUCA1 gene
fucosidosis
neuroimaging
Online Access:https://doi.org/10.1002/mgg3.70070
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https://doi.org/10.1002/mgg3.70070

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