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Article: Two novel factor X gene mutations in a Chinese family with factor X deficiency

TitleTwo novel factor X gene mutations in a Chinese family with factor X deficiency
Authors
Issue Date2004
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00277/index.htm
Citation
Annals Of Hematology, 2004, v. 83 n. 5, p. 304-306 How to Cite?
Abstract
We report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237→C mutation, leading to Phe71→Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71→Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71→Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability. © Springer-Verlag 2003.
Persistent Identifierhttp://hdl.handle.net/10722/162872
ISSN
2013 Impact Factor: 2.396
ISI Accession Number ID
References

 

Author Affiliations
  1. The University of Hong Kong
  2. Queen Mary Hospital Hong Kong
DC FieldValueLanguage
dc.contributor.authorAu, WYen_US
dc.contributor.authorLam, CCKen_US
dc.contributor.authorCheung, WCen_US
dc.contributor.authorKwong, YLen_US
dc.date.accessioned2012-09-05T05:24:37Z-
dc.date.available2012-09-05T05:24:37Z-
dc.date.issued2004en_US
dc.identifier.citationAnnals Of Hematology, 2004, v. 83 n. 5, p. 304-306en_US
dc.identifier.issn0939-5555en_US
dc.identifier.urihttp://hdl.handle.net/10722/162872-
dc.description.abstractWe report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237→C mutation, leading to Phe71→Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71→Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71→Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability. © Springer-Verlag 2003.en_US
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00277/index.htmen_US
dc.relation.ispartofAnnals of Hematologyen_US
dc.subject.meshAdulten_US
dc.subject.meshAmino Acid Substitutionen_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshBlood Coagulation Testsen_US
dc.subject.meshCytosineen_US
dc.subject.meshFactor X - Geneticsen_US
dc.subject.meshFactor X Deficiency - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Deletionen_US
dc.subject.meshGuanineen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMutationen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPhenylalanineen_US
dc.subject.meshSerineen_US
dc.titleTwo novel factor X gene mutations in a Chinese family with factor X deficiencyen_US
dc.typeArticleen_US
dc.identifier.emailKwong, YL:ylkwong@hku.hken_US
dc.identifier.authorityKwong, YL=rp00358en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/s00277-003-0803-1en_US
dc.identifier.pmid15060750en_US
dc.identifier.scopuseid_2-s2.0-2342594502en_US
dc.identifier.hkuros88090-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-2342594502&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume83en_US
dc.identifier.issue5en_US
dc.identifier.spage304en_US
dc.identifier.epage306en_US
dc.identifier.isiWOS:000221038200008-
dc.publisher.placeGermanyen_US
dc.identifier.scopusauthoridAu, WY=7202383089en_US
dc.identifier.scopusauthoridLam, CCK=16947291300en_US
dc.identifier.scopusauthoridCheung, WC=36934683800en_US
dc.identifier.scopusauthoridKwong, YL=7102818954en_US

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