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dc.contributor.authorLai, Chien-Yi
dc.contributor.authorTsai, I-Jung
dc.contributor.authorChiu, Pao-Chin
dc.contributor.authorAscher, David B
dc.contributor.authorChien, Yin-Hsiu
dc.contributor.authorHuang, Yu-Hsuan
dc.contributor.authorLin, Yi-Lin
dc.contributor.authorHwu, Wuh-Liang
dc.contributor.authorLee, Ni-Chung
dc.date.accessioned2022-01-06T11:50:11Z
dc.date.available2022-01-06T11:50:11Z
dc.date.issued2021-10-22
dc.identifier.issn2056-7944
dc.identifier.otherPMC8536767
dc.identifier.other34686677
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/332150
dc.description.abstractAlkaptonuria 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 revealed that c.16-2063 A > C activates a cryptic exon, causing protein truncation p.(Tyr5_Ile6insValTer17). A literature search identified another 6 patients with alkaptonuria in East Asia; including our cases, 13 of the 18 mutated alleles have not been reported elsewhere in the world. Alkaptonuria is rare in Taiwan and East Asia, with HGD variants being mostly novel and private.
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceessn: 2056-7944
dc.sourcenlmid: 101685193
dc.titleA novel deep intronic variant strongly associates with Alkaptonuria.
dc.typeArticle
dc.date.updated2022-01-06T11:50:11Z
prism.issueIdentifier1
prism.publicationNameNPJ Genom Med
prism.volume6
dc.identifier.doi10.17863/CAM.79596
dcterms.dateAccepted2021-10-04
rioxxterms.versionofrecord10.1038/s41525-021-00252-2
rioxxterms.versionVoR
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidLai, Chien-Yi [0000-0002-5962-8869]
dc.contributor.orcidAscher, David B [0000-0003-2948-2413]
dc.contributor.orcidChien, Yin-Hsiu [0000-0001-8802-5728]
dc.contributor.orcidLee, Ni-Chung [0000-0002-5011-7499]
dc.identifier.eissn2056-7944
pubs.funder-project-idNational Taiwan University Hospital (NTUH 105-002959)
pubs.funder-project-idNational Taiwan University Hospital (NTUH) (NTUH 105-002959)
pubs.funder-project-idMinistry of Science and Technology, Taiwan (Ministry of Science and Technology of Taiwan) (107-2314-B-002 -164 -MY3)
pubs.funder-project-idMinistry of Science and Technology, Taiwan (107-2314-B-002 -164 -MY3)
cam.issuedOnline2021-10-22


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International