Journal article
A novel deep intronic variant strongly associates with Alkaptonuria
CY Lai, IJ Tsai, PC Chiu, DB Ascher, YH Chien, YH Huang, YL Lin, WL Hwu, NC Lee
Npj Genomic Medicine | Published : 2021
Abstract
Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which causes ochronosis, arthropathy, cardiac valvular calcification, and urolithiasis. The epidemiology of alkaptonuria in East Asia is not clear. In this study, patients diagnosed with alkaptonuria from January 2010 to June 2020 were reviewed. Their clinical and molecular features were further compared with those of patients from other countries. Three patients were found to have alkaptonuria. Mutation analyses of the homogentisate 1,2-dioxygenase gene (HGD) showed four novel variants c.16-2063 A > C, p.(Thr196Ile), p.(Gly344AspfsTer25), and p.(Gly362Arg) in six mutated alleles (83.3%). RNA sequencing rev..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was funded by a grant from the Ministry of Science and Technology (1072314-B-002 -164 -MY3) of Taiwan and National Taiwan University Hospital (NTUH 105002959). We thank all the parents and their children who participated in the study. D. B.A. was supported by an Investigator Grant from the National Health and Medical Research Council (NHMRC) of Australia (GNT1174405) and in part by the Victorian Government's Operational Infrastructure Support Program. We would also thank Dr. Andrea Zatkova for helping in the submission of variants to HGD mutation database.