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Article: Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese

TitleBiochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
Authors
Mak, CMLam, CWSiu, TSChan, KYSiu, WKYeung, WLHui, JWong, VCNLow, LCKKo, CHFung, CWChen, SPYuen, YPLee, HCYau, EChan, BTong, SFTam, SChan, YW
KeywordsCSF neurotransmitters
Dopa-responsive dystonia
Homovanillic acid
Hong Kong Chinese
Mutational analysis
Tyrosine hydroxylase deficiency
Issue Date2010
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Citation
Molecular Genetics And Metabolism, 2010, v. 99 n. 4, p. 431-433 How to Cite?
DOI: http://dx.doi.org/10.1016/j.ymgme.2009.12.011
AbstractTyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations with 5 missense, 2 nonsense and 1 splicing mutations in the TH gene, namely p.R153X, p.R169X, p.G294R, p.G315S, p.A385V, p.I394T, p.G408R, and c.1163+5G>C. The mutations of the TH gene in Chinese are heterogeneous. © 2009 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/80105
ISSN
1096-7192
2023 Impact Factor: 3.7
2023 SCImago Journal Rankings: 1.095
ISI Accession Number ID
WOS:000276001400014
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorSiu, TSen_HK
dc.contributor.authorChan, KYen_HK
dc.contributor.authorSiu, WKen_HK
dc.contributor.authorYeung, WLen_HK
dc.contributor.authorHui, Jen_HK
dc.contributor.authorWong, VCNen_HK
dc.contributor.authorLow, LCKen_HK
dc.contributor.authorKo, CHen_HK
dc.contributor.authorFung, CWen_HK
dc.contributor.authorChen, SPen_HK
dc.contributor.authorYuen, YPen_HK
dc.contributor.authorLee, HCen_HK
dc.contributor.authorYau, Een_HK
dc.contributor.authorChan, Ben_HK
dc.contributor.authorTong, SFen_HK
dc.contributor.authorTam, Sen_HK
dc.contributor.authorChan, YWen_HK
dc.date.accessioned2010-09-06T08:02:28Z-
dc.date.available2010-09-06T08:02:28Z-
dc.date.issued2010en_HK
dc.identifier.citationMolecular Genetics And Metabolism, 2010, v. 99 n. 4, p. 431-433en_HK
dc.identifier.issn1096-7192en_HK
dc.identifier.urihttp://hdl.handle.net/10722/80105-
dc.description.abstractTyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations with 5 missense, 2 nonsense and 1 splicing mutations in the TH gene, namely p.R153X, p.R169X, p.G294R, p.G315S, p.A385V, p.I394T, p.G408R, and c.1163+5G>C. The mutations of the TH gene in Chinese are heterogeneous. © 2009 Elsevier Inc. All rights reserved.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgmeen_HK
dc.relation.ispartofMolecular Genetics and Metabolismen_HK
dc.subjectCSF neurotransmittersen_HK
dc.subjectDopa-responsive dystoniaen_HK
dc.subjectHomovanillic aciden_HK
dc.subjectHong Kong Chineseen_HK
dc.subjectMutational analysisen_HK
dc.subjectTyrosine hydroxylase deficiencyen_HK
dc.subject.meshAge of Onseten_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshChilden_HK
dc.subject.meshChild, Preschoolen_HK
dc.subject.meshDystonia - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGalactorrhea - geneticsen_HK
dc.subject.meshHomovanillic Acid - metabolismen_HK
dc.subject.meshHong Kongen_HK
dc.subject.meshHumansen_HK
dc.subject.meshInfanten_HK
dc.subject.meshMaleen_HK
dc.subject.meshMuscle Hypotonia - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshTyrosine 3-Monooxygenase - deficiency - geneticsen_HK
dc.titleBiochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1096-7192&volume=99&issue=4&spage=431&epage=433&date=2010&atitle=Biochemical+and+molecular+characterization+of+tyrosine+hydroxylase+deficiency+in+Hong+Kong+Chineseen_HK
dc.identifier.emailLam, CW: cwlam8@hku.hken_HK
dc.identifier.emailWong, VCN: vcnwong@hku.hken_HK
dc.identifier.emailLow, LCK: lcklow@hkucc.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityWong, VCN=rp00334en_HK
dc.identifier.authorityLow, LCK=rp00337en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.ymgme.2009.12.011en_HK
dc.identifier.pmid20056467-
dc.identifier.scopuseid_2-s2.0-77649342143en_HK
dc.identifier.hkuros169509en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77649342143&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume99en_HK
dc.identifier.issue4en_HK
dc.identifier.spage431en_HK
dc.identifier.epage433en_HK
dc.identifier.isiWOS:000276001400014-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridMak, CM=34971727200en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridSiu, TS=7005304925en_HK
dc.identifier.scopusauthoridChan, KY=36985741000en_HK
dc.identifier.scopusauthoridSiu, WK=36194091800en_HK
dc.identifier.scopusauthoridYeung, WL=7102370747en_HK
dc.identifier.scopusauthoridHui, J=7102160023en_HK
dc.identifier.scopusauthoridWong, VCN=7202525632en_HK
dc.identifier.scopusauthoridLow, LCK=7007049461en_HK
dc.identifier.scopusauthoridKo, CH=23497325200en_HK
dc.identifier.scopusauthoridFung, CW=7102443761en_HK
dc.identifier.scopusauthoridChen, SP=36193577100en_HK
dc.identifier.scopusauthoridYuen, YP=7003269011en_HK
dc.identifier.scopusauthoridLee, HC=24802335600en_HK
dc.identifier.scopusauthoridYau, E=36750314300en_HK
dc.identifier.scopusauthoridChan, B=35093813100en_HK
dc.identifier.scopusauthoridTong, SF=36244634400en_HK
dc.identifier.scopusauthoridTam, S=7202037323en_HK
dc.identifier.scopusauthoridChan, YW=9843540200en_HK
dc.identifier.citeulike6495004-
dc.identifier.issnl1096-7192-

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