Non-progressive Non-immune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene
نویسندگان
1 Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR Tehran, Iran Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran; Gene Clinic, Tehran, Iran
2 Shahid Beheshti University of Medical Sciences, , Tehran, Iran
3 Shahid Beheshti University of Medical Sciences, , Tehran , Iran
4 Shahid Beheshti University of Medical Sciences, , Tehran, Iran
5 Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR Tehran, Iran Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran; )Gene Clinic, Tehran, Iran
doi
10.22037/ijcn.v14i2.21648چکیده
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.
