Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.,Molecular Genetics & Genomic Medicine

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Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-19 , DOI: 10.1002/mgg3.1305
Jesús A Juárez-Osuna _{1,

2} , Sandra C Mendoza-Ruvalcaba ₂ , Angela Porras-Dorantes _{1,

2} , Thiago D Da Silva-José _{1,

2} , José E García-Ortiz _{2,

3}

Affiliation

Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA). ASA pseudodeficiency (PD‐ASA) is a biochemical condition that substantially diminishes ASA activity but is not associated with clinical manifestations. PD‐ASA is associated with the c.1055A>G (p.Asn352Ser) (rs2071421) and c.*96A>G (rs6151429) variants, which have an estimated frequency of 2% in the population.

中文翻译：

墨西哥的一种伪缺乏素：硫酸硫酸酯酶活性和单倍型分析。

异色性白细胞营养不良（MLD，OMIM 250100）是一种神经退行性疾病，由ARSA基因（OMIM 607574）的突变引起，导致芳基硫酸酯酶A（ASA）缺乏。ASA伪缺乏症（PD‐ASA）是一种生物化学疾病，可大大降低ASA活性，但与临床表现无关。PD‐ASA与c.1055A> G（p.Asn352Ser）（rs2071421）和c。* 96A> G（rs6151429）变体相关，它们在人群中的发生频率估计为2％。

更新日期：2020-05-19

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