Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene

Q4 Medicine

Revista Espanola de Patologia Pub Date : 2025-02-20 DOI:10.1016/j.patol.2025.100814

Emilio I. Abecia Martínez , Jorge Puente Prieto , Jorge Luis Delgado Fernández , Javier Martínez Castillón , Carlos Nagore González , Lucia Ferrando Lamana

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Abstract

Mucopolysaccharidoses (MPS) are a group of diseases caused by the accumulation of glycosaminoglycans (GAGs). Currently, eleven enzyme deficiencies have been described, with eight different MPS subtypes reported. MPS VII, also known as Sly syndrome, is a recessive disorder caused by pathogenic variants in the GUSB gene. This results in dysfunction of the enzyme β-glucuronidase, which can lead to non-immune hydrops fetalis (NIHF). The patient was a 22-week foetus with pathological nuchal translucency and unfavourable prognosis based on radiological criteria; as a result, both parents opted to terminate the pregnancy. Post mortem examination revealed several hallmarks of NIHF. Moreover, microscopic examination showed widespread histiocytes with microvacuolated cytoplasm. Genetic testing demonstrated biallelic variants in exon 8 of the GUSB gene, but both of uncertain meaning. Subsequent histological findings suggested that these GUSB gene variants resulted in MPS VII.

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粘多糖病VII型（Sly综合征）：GUSB基因新的不确定致病变异

粘多糖病（MPS）是一组由糖胺聚糖（GAGs）积累引起的疾病。目前，已经报道了11种酶缺陷，8种不同的MPS亚型。MPS VII，也被称为Sly综合征，是一种由GUSB基因的致病变异引起的隐性疾病。这导致酶β-葡萄糖醛酸酶功能障碍，可导致非免疫性积水胎儿（NIHF）。患者为22周胎儿，病理性颈部半透明，根据放射学标准预后不良；结果，父母双方都选择了终止妊娠。尸检显示了NIHF的几个特征。此外，显微镜检查显示广泛的组织细胞和微空泡细胞质。基因检测显示，GUSB基因的外显子8存在双等位基因变异，但两者的意义都不确定。随后的组织学结果表明，这些GUSB基因变异导致MPS VII。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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