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Article: Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese

TitleIdentification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese
Authors
KeywordsFamilial transthyretin amyloidosis
Hong Kong Chinese
TTR gene
Issue Date2007
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/13506129.asp
Citation
Amyloid, 2007, v. 14 n. 4, p. 293-297 How to Cite?
AbstractFamilial transthyretin amyloidosis (ATTR), caused by mutant transthyretin deposition, is mainly characterized by peripheral neuropathy, autonomic dysfunction, and cardiomyopathy. There are few reports among the Chinese population. We previously described the TTR mutation (Val30Ala) in the first Hong Kong Chinese family with ATTR. In this study, we report the progress of this family and describe another three unrelated Chinese kinships newly diagnosed with ATTR. The second proband presented mainly with peripheral neuropathy, and genetic analysis of the TTR gene showed alanine-to-serine substitution at amino acid 97. The third proband complained of autonomic dysfunction, and a novel missense mutation of glycine-to-glutamate substitution at amino acid 67 was found. The fourth patient presented with peripheral neuropathy and diastolic cardiomyopathy with the mutation threonine-to-lysine at codon 59. Diagnosis was delayed for more than 2 years. We performed DNA analysis in 46 subjects and detected a total of 21 patients, including the four probands, affected with ATTR, 15 of whom were still at a symptom-free stage at the time of writing. We conclude that ATTR remains largely underdiagnosed in the Chinese population. A high clinical suspicion is crucial for a timely diagnosis and can thus lead to a significant decrease in morbidity and mortality. © 2007 Informa UK Ltd.
Persistent Identifierhttp://hdl.handle.net/10722/77651
ISSN
2015 Impact Factor: 2.351
2015 SCImago Journal Rankings: 1.160
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_HK
dc.contributor.authorKwong, YLen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorChan, SCen_HK
dc.contributor.authorLo, CMen_HK
dc.contributor.authorFan, STen_HK
dc.contributor.authorChang, CMen_HK
dc.contributor.authorLau, YKen_HK
dc.contributor.authorLokSun, Uen_HK
dc.contributor.authorTam, Sen_HK
dc.date.accessioned2010-09-06T07:34:14Z-
dc.date.available2010-09-06T07:34:14Z-
dc.date.issued2007en_HK
dc.identifier.citationAmyloid, 2007, v. 14 n. 4, p. 293-297en_HK
dc.identifier.issn1350-6129en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77651-
dc.description.abstractFamilial transthyretin amyloidosis (ATTR), caused by mutant transthyretin deposition, is mainly characterized by peripheral neuropathy, autonomic dysfunction, and cardiomyopathy. There are few reports among the Chinese population. We previously described the TTR mutation (Val30Ala) in the first Hong Kong Chinese family with ATTR. In this study, we report the progress of this family and describe another three unrelated Chinese kinships newly diagnosed with ATTR. The second proband presented mainly with peripheral neuropathy, and genetic analysis of the TTR gene showed alanine-to-serine substitution at amino acid 97. The third proband complained of autonomic dysfunction, and a novel missense mutation of glycine-to-glutamate substitution at amino acid 67 was found. The fourth patient presented with peripheral neuropathy and diastolic cardiomyopathy with the mutation threonine-to-lysine at codon 59. Diagnosis was delayed for more than 2 years. We performed DNA analysis in 46 subjects and detected a total of 21 patients, including the four probands, affected with ATTR, 15 of whom were still at a symptom-free stage at the time of writing. We conclude that ATTR remains largely underdiagnosed in the Chinese population. A high clinical suspicion is crucial for a timely diagnosis and can thus lead to a significant decrease in morbidity and mortality. © 2007 Informa UK Ltd.en_HK
dc.languageengen_HK
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/13506129.aspen_HK
dc.relation.ispartofAmyloiden_HK
dc.rightsAmyloid. Copyright © Informa Healthcare.en_HK
dc.subjectFamilial transthyretin amyloidosisen_HK
dc.subjectHong Kong Chineseen_HK
dc.subjectTTR geneen_HK
dc.subject.meshAmino Acid Substitution-
dc.subject.meshAmyloidosis, Familial - ethnology - genetics - pathology-
dc.subject.meshAsian Continental Ancestry Group - genetics-
dc.subject.meshMutation-
dc.subject.meshPrealbumin - genetics-
dc.titleIdentification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1350-6129&volume=14&issue=4&spage=293&epage=297&date=2007&atitle=Identification+of+a+novel+TTR+Gly67Glu+mutant+and+the+first+case+series+of+familial+transthyretin+amyloidosis+in+Hong+Kong+Chineseen_HK
dc.identifier.emailKwong, YL: ylkwong@hku.hken_HK
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_HK
dc.identifier.emailChan, SC: chanlsc@hkucc.hku.hken_HK
dc.identifier.emailLo, CM: chungmlo@hkucc.hku.hken_HK
dc.identifier.emailFan, ST: stfan@hku.hken_HK
dc.identifier.authorityKwong, YL=rp00358en_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityChan, SC=rp01568en_HK
dc.identifier.authorityLo, CM=rp00412en_HK
dc.identifier.authorityFan, ST=rp00355en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1080/13506120701616532en_HK
dc.identifier.pmid17968690-
dc.identifier.scopuseid_2-s2.0-35649001438en_HK
dc.identifier.hkuros141775en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-35649001438&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume14en_HK
dc.identifier.issue4en_HK
dc.identifier.spage293en_HK
dc.identifier.epage297en_HK
dc.identifier.isiWOS:000251749100006-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridMak, CM=34971727200en_HK
dc.identifier.scopusauthoridKwong, YL=7102818954en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridChan, SC=7404255575en_HK
dc.identifier.scopusauthoridLo, CM=7401771672en_HK
dc.identifier.scopusauthoridFan, ST=7402678224en_HK
dc.identifier.scopusauthoridChang, CM=8330699200en_HK
dc.identifier.scopusauthoridLau, YK=22951448900en_HK
dc.identifier.scopusauthoridLokSun, U=22951382900en_HK
dc.identifier.scopusauthoridTam, S=7202037323en_HK

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