c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease

IF 1.3 4区医学 Q3 PEDIATRICS

Archives De Pediatrie Pub Date : 2024-05-01 DOI:10.1016/j.arcped.2023.11.002

Ghizlane Zouiri, Hajar Rhouda, Yamna Kriouile

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).

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首次在三名摩洛哥戈谢病患者中发现 c.754T>A 基因同源突变。

戈谢病（GD）是一种由葡萄糖脑苷脂酶（GBA）缺乏引起的溶酶体贮积症。戈谢病有三个亚型：1 型的特点是没有原发性中枢神经系统受累；2 型是急性神经病变性疾病；3 型是慢性神经病变性疾病。基因型与表型之间的相关性有时很难确定。据报道，F213I（c.754T>A p.Phe252Ile）突变是亚洲的一种独特突变。据我们所知，这是第一次在摩洛哥人群中报告 c.754T>A p. (Phe252Ile)突变（同基因状态），并且与 GD 2 型（两名患者）和 GD 3 型（一名患者）有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Archives De Pediatrie 医学-小儿科

CiteScore

2.80

自引率

5.60%

发文量

106

审稿时长

24.1 weeks

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.