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首页> 外文期刊>Molecular genetics and metabolism >Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations
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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

机译：对163名Morquio A（黏多糖贮积症IVA）患者的分子检测发现了39个新的GALNS突变

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摘要

Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing GAG accumulation within lysosomes and consequently pleiotropic disease. GALNS mutations occur throughout the gene and many mutations are identified only in single patients or families, causing difficulties both in mutation detection and interpretation. In this study, molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function, of which 39 are previously unpublished, together with 26 single-nucleotide polymorphisms. Recommendations for the molecular testing of patients, clear reporting of sequence findings, and interpretation of sequencing data are provided.
机译：Morquio A（粘多糖贮积症IVA; MPS IVA）是由GALNS编码的半乳糖胺6硫酸盐硫酸酯酶（GALNS;也称为N-乙酰半乳糖胺6硫酸盐硫酸酯酶）部分或全部缺乏引起的常染色体隐性溶酶体贮积病。基因。遗传两个突变的GALNS基因等位基因的患者降解糖胺聚糖（GAG）硫酸角质素和硫酸软骨素6的能力降低，从而导致GAG在溶酶体内积累，从而导致多效性疾病。 GALNS突变发生在整个基因中，许多突变仅在单个患者或家庭中被鉴定出来，从而导致突变检测和解释上的困难。在这项研究中，对163名Morquio A患者进行了分子分析，确定了GALNS基因中的99个独特突变，这些突变被认为会对GALNS蛋白功能产生负面影响，其中39个以前未发表，以及26个单核苷酸多态性。提供了对患者进行分子检测，清晰报告序列发现以及对测序数据进行解释的建议。

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