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

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TitleBiochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
AuthorsMak, CM2 4
Lam, CW1
Siu, TS4
Chan, KY2
Siu, WK2
Yeung, WL5
Hui, J3
Wong, VCN1
Low, LCK1
Ko, CH6
Fung, CW1
Chen, SP2
Yuen, YP2
Lee, HC2
Yau, E2
Chan, B2
Tong, SF1
Tam, S4
Chan, YW2
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
CitationMolecular 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.
ISSN1096-7192
2011 Impact Factor: 3.193
2011 SCImago Journal Rankings: 0.318
DOIhttp://dx.doi.org/10.1016/j.ymgme.2009.12.011
ISI Accession Number IDWOS:000276001400014
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorMak, CM
dc.contributor.authorLam, CW
dc.contributor.authorSiu, TS
dc.contributor.authorChan, KY
dc.contributor.authorSiu, WK
dc.contributor.authorYeung, WL
dc.contributor.authorHui, J
dc.contributor.authorWong, VCN
dc.contributor.authorLow, LCK
dc.contributor.authorKo, CH
dc.contributor.authorFung, CW
dc.contributor.authorChen, SP
dc.contributor.authorYuen, YP
dc.contributor.authorLee, HC
dc.contributor.authorYau, E
dc.contributor.authorChan, B
dc.contributor.authorTong, SF
dc.contributor.authorTam, S
dc.contributor.authorChan, YW
dc.date.accessioned2010-09-06T08:02:28Z
dc.date.available2010-09-06T08:02:28Z
dc.date.issued2010
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.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationMolecular 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
dc.identifier.citeulike6495004
dc.identifier.doihttp://dx.doi.org/10.1016/j.ymgme.2009.12.011
dc.identifier.epage433
dc.identifier.hkuros169509
dc.identifier.isiWOS:000276001400014
dc.identifier.issn1096-7192
2011 Impact Factor: 3.193
2011 SCImago Journal Rankings: 0.318
dc.identifier.issue4
dc.identifier.openurl
dc.identifier.pmid20056467
dc.identifier.scopuseid_2-s2.0-77649342143
dc.identifier.spage431
dc.identifier.urihttp://hdl.handle.net/10722/80105
dc.identifier.volume99
dc.languageeng
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
dc.publisher.placeUnited States
dc.relation.ispartofMolecular Genetics and Metabolism
dc.relation.referencesReferences in Scopus
dc.subject.meshAge of Onset
dc.subject.meshAsian Continental Ancestry Group - genetics
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshDystonia - genetics
dc.subject.meshFemale
dc.subject.meshGalactorrhea - genetics
dc.subject.meshHomovanillic Acid - metabolism
dc.subject.meshHong Kong
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshMale
dc.subject.meshMuscle Hypotonia - genetics
dc.subject.meshMutation
dc.subject.meshTyrosine 3-Monooxygenase - deficiency - genetics
dc.subjectCSF neurotransmitters
dc.subjectDopa-responsive dystonia
dc.subjectHomovanillic acid
dc.subjectHong Kong Chinese
dc.subjectMutational analysis
dc.subjectTyrosine hydroxylase deficiency
dc.titleBiochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong
  2. Princess Margaret Hospital Hong Kong
  3. Prince of Wales Hospital Hong Kong
  4. Queen Mary Hospital Hong Kong
  5. Alice Ho Miu Ling Nethersole Hospital
  6. Caritas Medical Centre Hong Kong