Iranian Journal of Child Neurology

Vol. 14 No. 2 (2020)

Non-progressive Non-immune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene

Iranian Journal of Child Neurology, Vol. 14 No. 2 (2020), 1 Farvardin 2020 , Page 101-106
https://doi.org/10.22037/ijcn.v14i2.21648

Abstract

Mucopolysaccharidosis type 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 manifestation such as non-immune hydrops fetalis, spinal deformity, organomegaly, multiplex dysostosis, intellectual disability, and eye involvement. It has been found to be caused by a mutation in GUSB gene on chromosome 7 q11. Here we reported an Iranian girl with Mucopolysaccharidosis type VII and a novel mutation (C. 542G>T, P.Arg181Leu) in GUSB gene.

Keywords:
  • Mucopolysaccharidosis
  • Sly syndrome
  • GUSB gene
  • Hydrops fetalis.

How to Cite

Mosallanejad, A., Alaei, M., Ghaffari, S. R., Rafati, maryam, & Saneifard, H. (2020). Non-progressive Non-immune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene. Iranian Journal of Child Neurology, 14(2), 101–106. https://doi.org/10.22037/ijcn.v14i2.21648

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