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Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene
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 vario...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shahid Beheshti University of Medical Sciences
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085123/ https://www.ncbi.nlm.nih.gov/pubmed/32256629 |
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author | MOSALLANEJAD, Asieh ALAEI, Mohammadreza GHAFFARI, Saeed Reza RAFATI, Maryam SANEIFARD, Hedyeh |
author_facet | MOSALLANEJAD, Asieh ALAEI, Mohammadreza GHAFFARI, Saeed Reza RAFATI, Maryam SANEIFARD, Hedyeh |
author_sort | MOSALLANEJAD, Asieh |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7085123 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Shahid Beheshti University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-70851232020-06-01 Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene MOSALLANEJAD, Asieh ALAEI, Mohammadreza GHAFFARI, Saeed Reza RAFATI, Maryam SANEIFARD, Hedyeh Iran J Child Neurol Case Report 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. Shahid Beheshti University of Medical Sciences 2020 /pmc/articles/PMC7085123/ /pubmed/32256629 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report MOSALLANEJAD, Asieh ALAEI, Mohammadreza GHAFFARI, Saeed Reza RAFATI, Maryam SANEIFARD, Hedyeh Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene |
title | Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene |
title_full | Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene |
title_fullStr | Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene |
title_full_unstemmed | Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene |
title_short | Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene |
title_sort | non-progressive nonimmune hydrops fetalis caused by a novel mutation in gusb gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085123/ https://www.ncbi.nlm.nih.gov/pubmed/32256629 |
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