Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations
Mucopolysaccharidosis (MPS) type VI or Maroteaux-Lamy syndrome is a very rare autosomal recessive lysosomal storage disease, caused by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB). Clinical examination, biochemical studies, and molecular genetic analyses have...
Saved in:
Main Authors: | , , , , , , , , |
---|---|
Format: | Journal |
Published: |
2018
|
Subjects: | |
Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84899952631&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/53298 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Chiang Mai University |
id |
th-cmuir.6653943832-53298 |
---|---|
record_format |
dspace |
spelling |
th-cmuir.6653943832-532982018-09-04T09:59:31Z Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations Piranit Nik Kantaputra Hulya Kayserili Yeliz Guven Warissara Kantaputra Mehmet C. Balci Pranoot Tanpaiboon Napaporn Tananuvat Anusha Uttarilli Ashwin Dalal Biochemistry, Genetics and Molecular Biology Medicine Mucopolysaccharidosis (MPS) type VI or Maroteaux-Lamy syndrome is a very rare autosomal recessive lysosomal storage disease, caused by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB). Clinical examination, biochemical studies, and molecular genetic analyses have been performed in 17 patients affected with MPS VI from 15 unrelated families from Thailand, India, and Turkey. Large ear lobule appears to be a newly recognized finding of this syndrome. Mutation analysis of the ARSB gene revealed seven missense and three frameshift mutations of which eight were novel. Novel missense mutations were p.Asp53Asn, p.Val376Glu, p.Glu390Lys, p.Pro445Leu, and p.Trp450Cys, while an Indian patient was homozygous for two novel missense mutations (p.Pro445Leu and p.Trp450Cys). Three novel frameshift mutations were p.Pro70fsX123, p.Ser403fs, and p.Thr526fs. Two previously reported mutations, p.Arg160Gln and p.Leu321Pro, were also observed in our cohort. The amino acid Arg160 appears to be the mutational hot spot for the ARSB gene. Five patients homozygous for p.Leu321Pro mutation had early onset of the disease, and haplotype analysis showed that the mutation is a founder mutation in Turkish population © 2014 Wiley Periodicals, Inc. 2018-09-04T09:46:32Z 2018-09-04T09:46:32Z 2014-01-01 Journal 15524833 15524825 2-s2.0-84899952631 10.1002/ajmg.a.36489 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84899952631&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/53298 |
institution |
Chiang Mai University |
building |
Chiang Mai University Library |
country |
Thailand |
collection |
CMU Intellectual Repository |
topic |
Biochemistry, Genetics and Molecular Biology Medicine |
spellingShingle |
Biochemistry, Genetics and Molecular Biology Medicine Piranit Nik Kantaputra Hulya Kayserili Yeliz Guven Warissara Kantaputra Mehmet C. Balci Pranoot Tanpaiboon Napaporn Tananuvat Anusha Uttarilli Ashwin Dalal Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations |
description |
Mucopolysaccharidosis (MPS) type VI or Maroteaux-Lamy syndrome is a very rare autosomal recessive lysosomal storage disease, caused by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB). Clinical examination, biochemical studies, and molecular genetic analyses have been performed in 17 patients affected with MPS VI from 15 unrelated families from Thailand, India, and Turkey. Large ear lobule appears to be a newly recognized finding of this syndrome. Mutation analysis of the ARSB gene revealed seven missense and three frameshift mutations of which eight were novel. Novel missense mutations were p.Asp53Asn, p.Val376Glu, p.Glu390Lys, p.Pro445Leu, and p.Trp450Cys, while an Indian patient was homozygous for two novel missense mutations (p.Pro445Leu and p.Trp450Cys). Three novel frameshift mutations were p.Pro70fsX123, p.Ser403fs, and p.Thr526fs. Two previously reported mutations, p.Arg160Gln and p.Leu321Pro, were also observed in our cohort. The amino acid Arg160 appears to be the mutational hot spot for the ARSB gene. Five patients homozygous for p.Leu321Pro mutation had early onset of the disease, and haplotype analysis showed that the mutation is a founder mutation in Turkish population © 2014 Wiley Periodicals, Inc. |
format |
Journal |
author |
Piranit Nik Kantaputra Hulya Kayserili Yeliz Guven Warissara Kantaputra Mehmet C. Balci Pranoot Tanpaiboon Napaporn Tananuvat Anusha Uttarilli Ashwin Dalal |
author_facet |
Piranit Nik Kantaputra Hulya Kayserili Yeliz Guven Warissara Kantaputra Mehmet C. Balci Pranoot Tanpaiboon Napaporn Tananuvat Anusha Uttarilli Ashwin Dalal |
author_sort |
Piranit Nik Kantaputra |
title |
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations |
title_short |
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations |
title_full |
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations |
title_fullStr |
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations |
title_full_unstemmed |
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations |
title_sort |
clinical manifestations of 17 patients affected with mucopolysaccharidosis type vi and eight novel arsb mutations |
publishDate |
2018 |
url |
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84899952631&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/53298 |
_version_ |
1681424109234290688 |