Biochemistry laboratory Farhat Hached Hospital, Street Doctor Moreau, 4000 Sousse, Tunisia.
Diagn Pathol. 2011 Apr 26;6:39. doi: 10.1186/1746-1596-6-39.
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic subtypes. The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate, 3 cases; mild, 1 case).
In this study, the IDUA mutations in eight unrelated Tunisian families were performed by amplifying and sequencing the IDUA exons and intron-exon jonctions.
Five IDUA mutations were detected: one is the L578Q, a novel mutation found, in milder patient. The others were the previously described: P533R, Y581X, F602X and R628X that produce a severe and intermediate phenotype. In addition, eighteen variants, including eight previously unreported polymorphisms (IVS6+21c>a, IVS7+79c>t, IVS7-45 g>c, IVS9+36t>c, IVS10+140c>a, IVS11+33c>t, IVS12+13c>t and IVS12-31c>g), were detected.
This paper, showed a heterogeneous pattern of mutations and polymorphisms among Tunisian patients.
黏多糖贮积症 I 型（MPS I）是一种常染色体隐性溶酶体贮积病，由α-L-艾杜糖苷酸酶（IDUA）的遗传缺陷引起，该酶参与硫酸皮肤素和硫酸乙酰肝素的降解。该疾病有严重和较轻的表型亚型。本研究的目的是从 12 名具有不同临床表型（严重，8 例；中度，3 例；轻度，1 例）的 MPS I 患者中检测 IDUA 基因的突变。
在这项研究中，通过扩增和测序 IDUA 外显子和内含子-外显子连接，对 8 个无关的突尼斯家族的 IDUA 突变进行了检测。
检测到 5 种 IDUA 突变：一种是 L578Q，在较轻的患者中发现的一种新突变。其他是以前描述的：P533R、Y581X、F602X 和 R628X，导致严重和中度表型。此外，还检测到 18 种变异，包括 8 种以前未报道的多态性（IVS6+21c>a、IVS7+79c>t、IVS7-45 g>c、IVS9+36t>c、IVS10+140c>a、IVS11+33c>t、IVS12+13c>t 和 IVS12-31c>g）。
本文显示了突尼斯患者中突变和多态性的异质性模式。
