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Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115308/ https://www.ncbi.nlm.nih.gov/pubmed/21734815 http://dx.doi.org/10.1590/S1415-47572011005000006 |
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author | Sun, Luning Li, Chunyi Song, Xiaoyu Zheng, Ningning Zhang, Haipeng Dong, Guizhang |
author_facet | Sun, Luning Li, Chunyi Song, Xiaoyu Zheng, Ningning Zhang, Haipeng Dong, Guizhang |
author_sort | Sun, Luning |
collection | PubMed |
description | Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie) were investigated, and 16 mutant alleles were identified. Three novel mutations in IDUA genes, one missense p.R363H (c.1088G > A) and two splice-site mutations (c.1190-1G > A and c.792+1G > T), were found. Notably, 45% (nine out of 20) and 30% (six out of 20) of the mutant alleles in the 10 families studied were c.1190-1G > A and c.792+1G > T, respectively. The novel missense mutation p.R363H was transiently expressed in CHO cells, and showed retention of 2.3% IDUA activity. Neither p.W402X nor p.Q70X associated with the Hurler phenotype, or even p.R89Q associated with the Scheie phenotype, was found in this group. Finally, it was noted that the Chinese MPS I patients proved to be characterized with a unique set of IDUA gene mutations, not only entirely different from those encountered among Europeans and Americans, but also apparently not even the same as those found in other Asian countries. |
format | Online Article Text |
id | pubmed-3115308 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
spelling | pubmed-31153082011-07-06 Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families Sun, Luning Li, Chunyi Song, Xiaoyu Zheng, Ningning Zhang, Haipeng Dong, Guizhang Genet Mol Biol Short Communication Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie) were investigated, and 16 mutant alleles were identified. Three novel mutations in IDUA genes, one missense p.R363H (c.1088G > A) and two splice-site mutations (c.1190-1G > A and c.792+1G > T), were found. Notably, 45% (nine out of 20) and 30% (six out of 20) of the mutant alleles in the 10 families studied were c.1190-1G > A and c.792+1G > T, respectively. The novel missense mutation p.R363H was transiently expressed in CHO cells, and showed retention of 2.3% IDUA activity. Neither p.W402X nor p.Q70X associated with the Hurler phenotype, or even p.R89Q associated with the Scheie phenotype, was found in this group. Finally, it was noted that the Chinese MPS I patients proved to be characterized with a unique set of IDUA gene mutations, not only entirely different from those encountered among Europeans and Americans, but also apparently not even the same as those found in other Asian countries. Sociedade Brasileira de Genética 2011-04-01 2011 /pmc/articles/PMC3115308/ /pubmed/21734815 http://dx.doi.org/10.1590/S1415-47572011005000006 Text en Copyright © 2011, Sociedade Brasileira de Genética. Printed in Brazil License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Communication Sun, Luning Li, Chunyi Song, Xiaoyu Zheng, Ningning Zhang, Haipeng Dong, Guizhang Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families |
title | Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families |
title_full | Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families |
title_fullStr | Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families |
title_full_unstemmed | Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families |
title_short | Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families |
title_sort | three novel α-l-iduronidase mutations in 10 unrelated chinese mucopolysaccharidosis type i families |
topic | Short Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115308/ https://www.ncbi.nlm.nih.gov/pubmed/21734815 http://dx.doi.org/10.1590/S1415-47572011005000006 |
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