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Article: Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

TitleClinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
Authors
KeywordsChinese
filamin C
filaminopathy
founder effect
haplotypes
Issue Date2020
PublisherWiley-Blackwell Publishing, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004
Citation
Clinical Genetics, 2020, v. 97 n. 5, p. 747-757 How to Cite?
AbstractFLNC‐related myofibrillar myopathy could manifest as autosomal dominant late‐onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC‐related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected. Twenty‐six patients were symptomatic when diagnosed; four patients died of pneumonia and/or respiratory failure. Abnormal amorphous material or granulofilamentous masses were detected in half of the cases, with mitochondrial abnormalities noted in two‐thirds. We also show by haplotype analysis the founder effect associated with this Hong Kong variant, which might have occurred 42 to 71 generations ago or around Tang and Song dynasties, and underlain a higher incidence of myofibrillar myopathy among Hong Kong Chinese. The late‐onset nature and slowly progressive course of the highly penetrant condition could have significant impact on the family members, and an early diagnosis could benefit the whole family. Considering another neighboring founder variant in FLNC in German patients, we advocate development of specific therapies such as chaperone‐based or antisense oligonucleotide strategies for this particular type of myopathy.
Persistent Identifierhttp://hdl.handle.net/10722/287188
ISSN
2019 Impact Factor: 3.578
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLee, HCH-
dc.contributor.authorWong, S-
dc.contributor.authorSheng, B-
dc.contributor.authorPan, NYK-
dc.contributor.authorLeung, YKF-
dc.contributor.authorLau, KKD-
dc.contributor.authorCheng, YS-
dc.contributor.authorHo, LC-
dc.contributor.authorLi, R-
dc.contributor.authorLee, CN-
dc.contributor.authorTsoi, TH-
dc.contributor.authorCheung, YFN-
dc.contributor.authorFu, YPM-
dc.contributor.authorKan, NCA-
dc.contributor.authorChu, YP-
dc.contributor.authorAu, WCL-
dc.contributor.authorYeung, HMJ-
dc.contributor.authorLi, SH-
dc.contributor.authorCheung, CFM-
dc.contributor.authorTong, HF-
dc.contributor.authorHung, LYE-
dc.contributor.authorChan, TYC-
dc.contributor.authorLi, CT-
dc.contributor.authorTong, TYT-
dc.contributor.authorTong, TWC-
dc.contributor.authorLeung, HYC-
dc.contributor.authorLee, KH-
dc.contributor.authorYeung, SYS-
dc.contributor.authorLee, SYB-
dc.contributor.authorLau, TCG-
dc.contributor.authorLam, CW-
dc.contributor.authorMak, CM-
dc.contributor.authorChan, AYW-
dc.date.accessioned2020-09-22T02:57:09Z-
dc.date.available2020-09-22T02:57:09Z-
dc.date.issued2020-
dc.identifier.citationClinical Genetics, 2020, v. 97 n. 5, p. 747-757-
dc.identifier.issn0009-9163-
dc.identifier.urihttp://hdl.handle.net/10722/287188-
dc.description.abstractFLNC‐related myofibrillar myopathy could manifest as autosomal dominant late‐onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC‐related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected. Twenty‐six patients were symptomatic when diagnosed; four patients died of pneumonia and/or respiratory failure. Abnormal amorphous material or granulofilamentous masses were detected in half of the cases, with mitochondrial abnormalities noted in two‐thirds. We also show by haplotype analysis the founder effect associated with this Hong Kong variant, which might have occurred 42 to 71 generations ago or around Tang and Song dynasties, and underlain a higher incidence of myofibrillar myopathy among Hong Kong Chinese. The late‐onset nature and slowly progressive course of the highly penetrant condition could have significant impact on the family members, and an early diagnosis could benefit the whole family. Considering another neighboring founder variant in FLNC in German patients, we advocate development of specific therapies such as chaperone‐based or antisense oligonucleotide strategies for this particular type of myopathy.-
dc.languageeng-
dc.publisherWiley-Blackwell Publishing, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004-
dc.relation.ispartofClinical Genetics-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subjectChinese-
dc.subjectfilamin C-
dc.subjectfilaminopathy-
dc.subjectfounder effect-
dc.subjecthaplotypes-
dc.titleClinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese-
dc.typeArticle-
dc.identifier.emailCheng, YS: chengy14@HKUCC-COM.hku.hk-
dc.identifier.emailKan, NCA: anckan@hku.hk-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.emailMak, CM: chloemak@HKUCC-COM.hku.hk-
dc.identifier.authorityLam, CW=rp00260-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/cge.13715-
dc.identifier.pmid32022900-
dc.identifier.scopuseid_2-s2.0-85083689435-
dc.identifier.hkuros314508-
dc.identifier.volume97-
dc.identifier.issue5-
dc.identifier.spage747-
dc.identifier.epage757-
dc.identifier.isiWOS:000515056200001-
dc.publisher.placeDenmark-
dc.identifier.issnl0009-9163-

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