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Article: Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania

TitleClinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania
Authors
KeywordsDuchenne muscular dystrophy
Steroid therapy
Clinical practice
Epidemiology
Care recommendation
Issue Date2020
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/braindev
Citation
Brain & Development, 2020, v. 42 n. 3, p. 277-288 How to Cite?
AbstractBackground LMNA-related muscular dystrophy is caused by mutations in LMNA gene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNA mutations in an attempt to establish genotype-phenotype correlation. Methods The clinical presentations of patients with LMNA-related muscular dystrophy were recorded using retrospective and prospective cohort study. LMNA mutation analysis was performed by Sanger sequencing or next-generation sequencing. Mosaicism was detected by personal genome machine amplicon deep sequencing for mosaicism. Results Eighty-four patients were identified to harbour LMNA mutations. Forty-one of those were diagnosed with LMNA-related congenital muscular dystrophy (L-CMD), 32 with Emery-Dreifuss muscular dystrophy (EDMD) and 11 with limb-girdle muscular dystrophy type 1B (LGMD1B). We identified 21 novel and 29 known LMNA mutations. Two frequent mutations were identified: c.745C>T and c.1357C>T. A correlation between the location of mutation and the clinical phenotype was observed: mutations affecting the head and coil 2A domains mainly occurred in L-CMD, while the coil 2B and Ig-like domains mainly related to EDMD and LGMD1B. We found somatic mosaicism in one parent of four probands. Muscle biopsies revealed 11 of 20 biopsied L-CMD exhibited inflammatory changes, and muscle cell ultrastructure showed abnormal nuclear morphology. Conclusions Our detailed clinical and genetic analysis of 84 patients with LMNA-related muscular dystrophy expands clinical spectrum and broadens genetic variations caused by LMNA mutations. We identified 21 novel and 29 known LMNA mutations and found two frequent mutations. A correlation between the location of mutation and the clinical severity was observed. Preliminary data suggested that low-dose corticosteroid treatment may be effective.
Persistent Identifierhttp://hdl.handle.net/10722/290625
ISSN
2019 Impact Factor: 1.504
2015 SCImago Journal Rankings: 0.840
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorTakeuchi, F-
dc.contributor.authorNakamura, H-
dc.contributor.authorYonemoto, N-
dc.contributor.authorKomaki, H-
dc.contributor.authorRosales, RL-
dc.contributor.authorKornberg, AJ-
dc.contributor.authorBretag, AH-
dc.contributor.authorDejthevaporn, C-
dc.contributor.authorGoh, KJ-
dc.contributor.authorJong, YJ-
dc.contributor.authorKim, DS-
dc.contributor.authorKhadilkar, SV-
dc.contributor.authorShen, D-
dc.contributor.authorWong, KT-
dc.contributor.authorChai, J-
dc.contributor.authorChan, SHS-
dc.contributor.authorKhan, S-
dc.contributor.authorOhnmar, O-
dc.contributor.authorNishino, I-
dc.contributor.authorTakeda, S-
dc.contributor.authorNonaka, I-
dc.date.accessioned2020-11-02T05:44:51Z-
dc.date.available2020-11-02T05:44:51Z-
dc.date.issued2020-
dc.identifier.citationBrain & Development, 2020, v. 42 n. 3, p. 277-288-
dc.identifier.issn0387-7604-
dc.identifier.urihttp://hdl.handle.net/10722/290625-
dc.description.abstractBackground LMNA-related muscular dystrophy is caused by mutations in LMNA gene. We aimed to identify genetic variations and clinical features in a large cohort of Chinese patients with LMNA mutations in an attempt to establish genotype-phenotype correlation. Methods The clinical presentations of patients with LMNA-related muscular dystrophy were recorded using retrospective and prospective cohort study. LMNA mutation analysis was performed by Sanger sequencing or next-generation sequencing. Mosaicism was detected by personal genome machine amplicon deep sequencing for mosaicism. Results Eighty-four patients were identified to harbour LMNA mutations. Forty-one of those were diagnosed with LMNA-related congenital muscular dystrophy (L-CMD), 32 with Emery-Dreifuss muscular dystrophy (EDMD) and 11 with limb-girdle muscular dystrophy type 1B (LGMD1B). We identified 21 novel and 29 known LMNA mutations. Two frequent mutations were identified: c.745C>T and c.1357C>T. A correlation between the location of mutation and the clinical phenotype was observed: mutations affecting the head and coil 2A domains mainly occurred in L-CMD, while the coil 2B and Ig-like domains mainly related to EDMD and LGMD1B. We found somatic mosaicism in one parent of four probands. Muscle biopsies revealed 11 of 20 biopsied L-CMD exhibited inflammatory changes, and muscle cell ultrastructure showed abnormal nuclear morphology. Conclusions Our detailed clinical and genetic analysis of 84 patients with LMNA-related muscular dystrophy expands clinical spectrum and broadens genetic variations caused by LMNA mutations. We identified 21 novel and 29 known LMNA mutations and found two frequent mutations. A correlation between the location of mutation and the clinical severity was observed. Preliminary data suggested that low-dose corticosteroid treatment may be effective.-
dc.languageeng-
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/braindev-
dc.relation.ispartofBrain & Development-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectDuchenne muscular dystrophy-
dc.subjectSteroid therapy-
dc.subjectClinical practice-
dc.subjectEpidemiology-
dc.subjectCare recommendation-
dc.titleClinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania-
dc.typeArticle-
dc.identifier.emailChan, SHS: sophehs@hku.hk-
dc.identifier.authorityChan, SHS=rp02210-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1016/j.braindev.2019.12.005-
dc.identifier.pmid31980267-
dc.identifier.scopuseid_2-s2.0-85078191407-
dc.identifier.hkuros317725-
dc.identifier.volume42-
dc.identifier.issue3-
dc.identifier.spage277-
dc.identifier.epage288-
dc.identifier.isiWOS:000521520500006-
dc.publisher.placeNetherlands-
dc.identifier.issnl0387-7604-

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