1. c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease.
- Author
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Zouiri G, Rhouda H, and Kriouile Y
- Subjects
- Humans, Glucosylceramidase genetics, Morocco, Mutation, Gaucher Disease genetics, Gaucher Disease diagnosis, Homozygote
- Abstract
Gaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase (GBA) deficiency. There are three subcategories of GD: Type 1 is characterized by the absence of primary central nervous system involvement; type 2 is an acute neuropathic disorder; and type 3 is chronic neuropathic. The correlation between genotype and phenotype is sometimes difficult to establish. The F213I (c.754T>A p.Phe252Ile) mutation was reported to be a unique mutation in Asia. To our knowledge, this is the first time the c.754T>A p.(Phe252Ile) mutation (homozygous state) is reported in a Moroccan population and is associated with GD type 2 (two patients) and GD type 3 (one patient)., Competing Interests: Declaration of competing interest The authors declare that they have no competing interest., (Copyright © 2024 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)
- Published
- 2024
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