Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.

外显子 错义突变 粘多糖病Ⅱ型 遗传学 亨特综合征 桑格测序 生物 假基因 分子生物学 基因 人口 表型 突变 医学 疾病 内科学 酶替代疗法 基因组 环境卫生
作者
M A Ramírez-Hernández,L E Figuera,L C Rizo-de la Torre,M T Magaña-Torres S C Mendoza-Ruvalcaba,L Arnaud-López,José Elías García‐Ortíz,Guillermo Moisés Zúñiga‐González,Ana María Puebla‐Pérez,B C Gómez-Meda,Martha Patricia Gallegos‐Arreola
出处
期刊:DOAJ: Directory of Open Access Journals - DOAJ 卷期号:26 (14): 5115-5127 被引量:1
标识
DOI:10.26355/eurrev_202207_29300
摘要

Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which is responsible for degrading heparan and dermatan sulfate. The IDS gene is located on chromosome Xq28; pathological variants in this gene mostly consist of missense mutations and small and larger deletions, which produce different phenotypes. However, there is only one record in our population concerning the molecular mechanism of this disease; a genotype-phenotype description is not available.There were included 24 unrelated male patients; clinical features were recorded at a database, fluorometric IDS enzyme activity testing was done for each individual, followed by Sanger sequencing to identify mutations.The mutational spectrum was found in 16 out of 24 Mexican patients with MPS II, and its range of phenotypes was described. The most frequent variants were of the missense type. The most affected exons were exon 3 (c.275T>G, c.284_287del, c.325T>C), exon 8 (c.1035G>C, c.550G>A), exon 9 (c.1403G>C, c.1229_1229del), and exon 7 (c.979A>C; this variant has not been previously reported). Exon 5 (c.438C>T, a non-pathogenic variant) was the least frequent. It was also found that the most severely affected patients were those with large deletions (2 out of 24) [rsaIDS: IDSP1 (P164)x0, FMR1, AFF2 (P164)x2] involving genes and pseudogenes. We found 2 patients with a synonymous mutation in exon 4.Our results confirmed reports in the literature, since the most frequent variants were reported in exons 3 and 8. However, this result varies from one previous report in our population, which mentions large deletions and rearrangements as the most frequent alterations, since complex rearrangements were not found. According to what has been previously found, the most severely affected patients are those in which a whole gene has been deleted.
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