Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments
Edward S. X. Moh
A , Andreas Zankl B C D and Nicolle H. Packer A *
A ARC Centre of Excellence for Synthetic Biology, School of Natural Sciences, Faculty of Science and Engineering, Macquarie University, North Ryde, Sydney, NSW 2109, Australia.
B Department of Clinical Genetics, The Children’s Hospital at Westmead, Sydney, NSW 2145, Australia.
C Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2006, Australia.
D Bone Biology Division and Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
Australian Journal of Chemistry 76(8) 476-481 https://doi.org/10.1071/CH23041
Submitted: 24 February 2023 Accepted: 5 May 2023 Published: 31 May 2023
© 2023 The Author(s) (or their employer(s)). Published by CSIRO Publishing. This is an open access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND)
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.
Keywords: carbohydrate sulfotransferase 3, clinical sample collection, Congenital disorders of glycosylation, freezer-induced urine sediments, glycosaminoglycans, proteoglycan, skeletal dysplasia, urine biomarker.
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