Author/Authors :
Mosallanejad, Asieh Department of Pediatric Endocrinology and Metabolic diseases - Mofid children hospital - Shahid Beheshti University of Medical Sciences, Tehran , Alaei, Mohammad reza Department of Pediatric Endocrinology and Metabolic diseases - Mofid children hospital - Shahid Beheshti University of Medical Sciences, Tehran , Ghaffari, Saeed Reza Reproductive Biotechnology Research Center - Avicenna Research Institute - Shahid Beheshti University of Medical Sciences, Tehran , Rafati, Maryam Reproductive Biotechnology Research Center - Avicenna Research Institute - Shahid Beheshti University of Medical Sciences, Tehran , Saneifard, Hedyeh Department of Pediatric Endocrinology and Metabolic diseases - Mofid children hospital - Shahid Beheshti University of Medical Sciences, Tehran
Abstract :
Objectives
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 GUSB 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 GUSB gene.
Keywords :
Mucopolysaccharidosis , Sly Syndrome , GUSB Gene , Hydrops Fetalis
