Mosallanejad Asieh, Alaei Mohammadreza, Ghaffari Saeed Reza, Rafati Maryam, Saneifard Hedyeh
Department of Pediatric Endocrinology and Metabolic diseases, Mofid children hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Reproductive Biotechnology Research Center, Avicenna Research Institute, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Iran J Child Neurol. 2020 Spring;14(2):101-106.
Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive disorder caused by deficiency of β-glucuronidase enzyme, which is involved in degradation of glycosaminoglycans. The lack of β-glucuronidase in this lysosomal storage disorder is characterized by various manifestations such as nonimmune hydrops fetalis, spinal deformity, organomegaly, dysostosis multiplex, intellectual disability, and eye involvement. It is caused by a mutation in gene located on chromosome 7 q11. The current study reported an Iranian female with MPS VII and a novel mutation (c.542G>T, p.Arg181Leu) in gene.
黏多糖贮积症VII型（MPS VII）或斯利综合征是一种罕见的常染色体隐性疾病，由β-葡萄糖醛酸酶缺乏引起，该酶参与糖胺聚糖的降解。这种溶酶体贮积症中β-葡萄糖醛酸酶的缺乏表现为多种症状，如非免疫性胎儿水肿、脊柱畸形、器官肿大、多发性骨发育异常、智力残疾和眼部受累。它是由位于7号染色体q11上的基因突变引起的。本研究报告了一名患有MPS VII的伊朗女性以及该基因中的一个新突变（c.542G>T，p.Arg181Leu）。
