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首页> 外文期刊>Molecular Genetics and Metabolism Reports >Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation
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Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

机译：哥伦比亚粘多糖贮积症IVA患者的临床和分子特征，以及新的galns基因突变的描述

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A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV. To enhance the knowledge of the disease in the country, we aimed to characterize clinical and molecular findings in 12 MPS IVA patients. Twelve patients were included in the study, with most patients of female gender ( n ?=?7, 58,3%), age range 2 to 28?years, average weight 26?kg (17.6–43?kg), average height 97?cm (92–104?cm), average BMI 27.6?kg/msup2/sup (19.92–47.65?kg/msup2/sup). Clinical findings were similar to those described in the literature. GALNS gene molecular analysis showed five homozygous missense mutations in exon 11 c.1156C??T or p.R386C, a single nonsense mutation in the heterozygous state c.974G??A p.W325, and heterozygous in exon 9 mutation of exon 3 c.280C??T p.R94C, missense variant reported by Ogawa in 1995 [ 17 ]. There was only one patient that presented a homozygous missense mutation in exon 9 c.901G??T p.G301C and four patients showed the heterozygous form. A heterozygous missense mutation in exon 5 c.425A??T p.H142L, which has not been previously reported, was found in a female patient, 2?years 11?months of age. The diagnosis algorithms that include molecular analysis, bioinformatic predictive tools, pharmacogenomics, and proteomics helps to improve the diagnosis, treatment, and prognosis of patients affected by MPS IVA.
机译：2012年发表的一项研究估计了MPS IVA的发病率，哥伦比亚每100 000例活产中有0.68例，而根据哥伦比亚高成本疾病基金的统计，2014年有15人被诊断出MPS IV。为了增进对该国疾病的了解，我们旨在表征12名MPS IVA患者的临床和分子发现。该研究包括了十二名患者，其中大多数患者为女性（n == 7，58.3％），年龄范围为2至28岁，平均体重26 kg（17.6-43 kg），平均身高97？cm（92–104？cm），平均BMI 27.6？kg / m 2 （19.92–47.65？kg / m 2 ）。临床发现与文献中描述的相似。 GALNS基因分子分析显示在外显子11c.1156Cα>ΔT或p.R386C中有5个纯合错义突变，在杂合状态c.974Gα>ΔAp.W325中有一个无意义突变，而在外显子9外显子9突变中杂合了外显子3 c.280C→＞ T p.R94C，Ogawa在1995年报道的错义变异[17]。在外显子9c.901Gα＞ΔTp.G301C中只有一名患者出现纯合错义突变，四名患者呈杂合形式。在女性患者中发现了外显子5c.425Aβ>ΔTp.H142L的一个杂合的错义突变，该突变先前未曾报道过，年龄为2岁11岁。诊断算法包括分子分析，生物信息学预测工具，药物基因组学和蛋白质组学，有助于改善受MPS IVA影响的患者的诊断，治疗和预后。

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