{"title":"c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease","authors":"Ghizlane Zouiri, Hajar Rhouda, Yamna Kriouile","doi":"10.1016/j.arcped.2023.11.002","DOIUrl":null,"url":null,"abstract":"<div><p>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><em>A</em> p.Phe252Ile) mutation was reported to be a unique mutation in Asia. To our knowledge, this is the first time the c.754T><em>A</em> 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).</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives De Pediatrie","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0929693X2400023X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
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).
期刊介绍:
Archives de Pédiatrie publishes in English original Research papers, Review articles, Short communications, Practice guidelines, Editorials and Letters in all fields relevant to pediatrics.
Eight issues of Archives de Pédiatrie are released annually, as well as supplementary and special editions to complete these regular issues.
All manuscripts submitted to the journal are subjected to peer review by international experts, and must:
Be written in excellent English, clear and easy to understand, precise and concise;
Bring new, interesting, valid information - and improve clinical care or guide future research;
Be solely the work of the author(s) stated;
Not have been previously published elsewhere and not be under consideration by another journal;
Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed.
Under no circumstances does the journal guarantee publication before the editorial board makes its final decision.
Archives de Pédiatrie is the official publication of the French Society of Pediatrics.