Ontology highlight
ABSTRACT:
SUBMITTER: Stepien KM
PROVIDER: S-EPMC7700486 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Stepien Karolina M KM Ciara Elżbieta E Jezela-Stanek Aleksandra A
Genes 20201122 11
Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features include coarse facial features, growth retardation, recurrent upper respiratory infections, dysostosis multiplex, and angiokeratoma corporis diffusum. Fucosidosis is caused by mutations in the <i>FUCA1</i> gene resulting in α-L-fucosidase deficiency. Only 36 pathogenic variants in the <i>FUCA1</i> gene are related to fucosidosis. Most of them are missense/nonsense substitutions; six missense and 11 nonsens ...[more]