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

Asieh Mosallanejad, Mohammadreza Alaei, Saeed Reza Ghaffari, maryam Rafati, Hedyeh Saneifard

Abstract


54

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.

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References


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DOI: https://doi.org/10.22037/ijcn.v14i2.21648

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