A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I

Li Yujue; Tang Xueyang; Meng Yang; Luo Guojing; Yu Xijie

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A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I

机译：α-L-近核苷酸酶基因中的一种新型化合物突变导致粘多素病症I型

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Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by mutations in alpha-L-iduronidase (IDUA) gene. IDUA contributes to the degradation of the glycosaminoglycans, including heparan sulphate and dermatan sulphate. Deficient activity of IDUA generates accumulation of glycosaminoglycans in lysosomes leading to MPS I. Here, we identified two boys with MPS I caused by a compound heterozygote of a reported c.265C>T (p.R89W) missense mutation in exon 2 and a novel c.1633G>T (p.E545*, 109) nonsense mutation in exon 11 of IDUA gene in a Chinese family. R89 is close to the active site and its replacement will affect the structure and function of IDUA. Besides, termination from E545 deletes one of the prominent domains and alters the spatial structure of IDUA. In conclusion, our study demonstrates a previously unrecognized mutation in IDUA gene and this report adds to the mutational spectrum observed.

机译：粘性多族种I型（MPS I）是由α-L-近核苷酸酶（IDUA）基因的突变引起的稀有常血型隐性疾病。 IDUA有助于糖酰胺聚糖的降解，包括硫酸乙酰肝素和皮肤硫酸盐。 IDUA的缺陷活性在溶酶体中产生糖酰胺聚糖的积累，导致MPS I.在这里，我们鉴定了由报告的C.265C> T（P.R89W）畸形突变在外显子2和小说引起的MPS引起的MPS引起的两个男孩 C.1633G> T（P.E545 *，109）中国家庭IDUA基因外显子11的无意义突变。 R89接近活动场所，其替代物将影响IDUA的结构和功能。此外，来自E545的终止删除了一个突出的域，并改变了idua的空间结构。总之，我们的研究证明了以前未被识别的IDUA基因突变，本报告增加了观察到的突变谱。

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来源
《Journal of genetics》 |2019年第3期|共4页
作者
Li Yujue; Tang Xueyang; Meng Yang; Luo Guojing; Yu Xijie;
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作者单位

Sichuan Univ West China Hosp Dept Endocrinol &

Metab Lab Endocrinol &

Metab Chengdu 610041 Sichuan Peoples R China;

Sichuan Univ West China Hosp Dept Pediat Surg Chengdu 610041 Sichuan Peoples R China;

Sichuan Univ West China Hosp Dept Endocrinol &

Metab Lab Endocrinol &

Metab Chengdu 610041 Sichuan Peoples R China;

Sichuan Univ West China Hosp Dept Endocrinol &

Metab Lab Endocrinol &

Metab Chengdu 610041 Sichuan Peoples R China;

Sichuan Univ West China Hosp Dept Endocrinol &

Metab Lab Endocrinol &

Metab Chengdu 610041 Sichuan Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类遗传学;
关键词
mucopolysaccharidosis type I; IDUA gene; alpha-L-iduronidase;

机译：镁多元素型I;idua基因;α-l-雌壬酶酶;

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专利

1. A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I [J] . Li Yujue, Tang Xueyang, Meng Yang, Journal of genetics . 2019,第3期

机译：α-L-近核苷酸酶基因中的一种新型化合物突变导致粘多素病症I型
2. Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene. [J] . Furukawa Y, Hamaguchi A, Nozaki I, Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2011,第1a2期

机译：宫颈前脑膜肥大是单卵双胞胎中I型粘多糖贮积病的初始和主要表现，在α-L-异丁烯酸酶基因中有新突变。
3. Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients [J] . Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, Diagnostic pathology . 2011,第S1期

机译：I型粘多糖贮积病：突尼斯患者中两个新的α-L-艾杜糖醛酸酶突变的分子特征
4. Protein Analysis of Exon 8 Mutation in Iduronate 2-Sulfatase Gene in Mucopolysaccharidosis Type II Patients in Indonesia [C] . Anggia Nurwulan Kusno Putri, Steven Arianto, Rizky Priambodo, International Symposium of Biomedical Engineering . 2019

机译：印度尼西亚黏膜多种术患者锰酸二磺酸盐酶II型患者近磺酸2-硫酸酶基因的外显子8突变蛋白质分析
5. Adeno-associated virus vectors transducing the alpha-L-iduronidase gene for the treatment of mucopolysaccharidosis type I. [D] . Hartung, Seth David. 2003

机译：转导α-L-艾杜糖苷酶基因的腺相关病毒载体，用于治疗I型粘多糖贮积病。
6. Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients [O] . Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, 2011

机译：I型粘多糖贮积病：突尼斯患者中两个新的α-L-异丁烯酸酶突变的分子特征
7. Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients [O] . Latifa Chkioua, Souhir Khedhiri, Hadhami Turkia, 2011

机译：I型粘多糖贮积病：突尼斯患者中两个新的α-L-异丁烯酸酶突变的分子特征

A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I

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