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- Title
Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene.
- Authors
MOSALLANEJAD, Asieh; ALAEI, Mohammadreza; GHAFFARI, Saeed Reza; RAFATI, Maryam; SANEIFARD, Hedyeh
- Abstract
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.
- Subjects
IRAN; SPINE diseases diagnosis; EYE movements; GLYCOSIDASES; PEOPLE with intellectual disabilities; MUCOPOLYSACCHARIDOSIS; GENETIC mutation; HYDROPS fetalis
- Publication
Iranian Journal of Child Neurology, 2020, Vol 14, Issue 2, p101
- ISSN
1735-4668
- Publication type
Article