Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments

Edward S. X. Moh; Andreas Zankl; Nicolle H. Packer

doi:10.1071/CH23041

Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments

Edward S. X. Moh, Andreas Zankl, Nicolle H. Packer^*

^*Corresponding author for this work

School of Natural Sciences

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

68 Downloads (Pure)

Abstract

Skeletal dysplasias are a group of rare genetic disorders that affect growth and development of the skeleton, leading to physical deformities and other medical problems. High-throughput genome sequencing technologies have made it easier to genotype the disorder, but do not always reflect the phenotypic outcome. CHST3-related skeletal dysplasia is caused by the reduced function of the carbohydrate sulfotransferase that sulfates chondroitin sulfate glycosaminoglycans. We show in this pilot study that we were able to phenotype patients with CHST3-related skeletal dysplasia by profiling the glycosaminoglycans and identifying their potential protein carriers sequentially using freezer-induced patient urine sediments.

Original language	English
Pages (from-to)	476-481
Number of pages	6
Journal	Australian Journal of Chemistry
Volume	76
Issue number	8
Early online date	May 2023
DOIs	https://doi.org/10.1071/CH23041
Publication status	Published - 31 May 2023

Bibliographical note

Copyright the Author(s) 2023. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

Keywords

carbohydrate sulfotransferase 3
clinical sample collection
Congenital disorders of glycosylation
freezer-induced urine sediments
glycosaminoglycans
proteoglycan
skeletal dysplasia
urine biomarker

Access to Document

10.1071/CH23041Licence: CC BY-NC-ND

Publisher version (open access)Final published version, 1.16 MBLicence: CC BY-NC-ND

Cite this

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title = "Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments",

abstract = "Skeletal dysplasias are a group of rare genetic disorders that affect growth and development of the skeleton, leading to physical deformities and other medical problems. High-throughput genome sequencing technologies have made it easier to genotype the disorder, but do not always reflect the phenotypic outcome. CHST3-related skeletal dysplasia is caused by the reduced function of the carbohydrate sulfotransferase that sulfates chondroitin sulfate glycosaminoglycans. We show in this pilot study that we were able to phenotype patients with CHST3-related skeletal dysplasia by profiling the glycosaminoglycans and identifying their potential protein carriers sequentially using freezer-induced patient urine sediments.",

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AU - Zankl, Andreas

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N2 - Skeletal dysplasias are a group of rare genetic disorders that affect growth and development of the skeleton, leading to physical deformities and other medical problems. High-throughput genome sequencing technologies have made it easier to genotype the disorder, but do not always reflect the phenotypic outcome. CHST3-related skeletal dysplasia is caused by the reduced function of the carbohydrate sulfotransferase that sulfates chondroitin sulfate glycosaminoglycans. We show in this pilot study that we were able to phenotype patients with CHST3-related skeletal dysplasia by profiling the glycosaminoglycans and identifying their potential protein carriers sequentially using freezer-induced patient urine sediments.

AB - Skeletal dysplasias are a group of rare genetic disorders that affect growth and development of the skeleton, leading to physical deformities and other medical problems. High-throughput genome sequencing technologies have made it easier to genotype the disorder, but do not always reflect the phenotypic outcome. CHST3-related skeletal dysplasia is caused by the reduced function of the carbohydrate sulfotransferase that sulfates chondroitin sulfate glycosaminoglycans. We show in this pilot study that we were able to phenotype patients with CHST3-related skeletal dysplasia by profiling the glycosaminoglycans and identifying their potential protein carriers sequentially using freezer-induced patient urine sediments.

KW - carbohydrate sulfotransferase 3

KW - clinical sample collection

KW - Congenital disorders of glycosylation

KW - freezer-induced urine sediments

KW - glycosaminoglycans

KW - proteoglycan

KW - skeletal dysplasia

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Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments

Abstract

Bibliographical note

Keywords

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COESB: ARC Centre of Excellence in Synthetic Biology

Cite this

Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments

Abstract

Bibliographical note

Keywords

Access to Document

Other files and links

Fingerprint

Projects

COESB: ARC Centre of Excellence in Synthetic Biology

Cite this