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dc.contributor.authorLiang, Wen-Chenen_US
dc.contributor.authorZhu, Wenhuaen_US
dc.contributor.authorMitsuhashi, Satomien_US
dc.contributor.authorNoguchi, Satoruen_US
dc.contributor.authorSacher, Michaelen_US
dc.contributor.authorOgawa, Megumuen_US
dc.contributor.authorShih, Hsiang-Hungen_US
dc.contributor.authorJong, Yuh-Jyhen_US
dc.contributor.authorNishino, Ichizoen_US
dc.date.accessioned2019-04-03T06:36:01Z-
dc.date.available2019-04-03T06:36:01Z-
dc.date.issued2015-08-28en_US
dc.identifier.issn2044-5040en_US
dc.identifier.urihttp://dx.doi.org/10.1186/s13395-015-0056-4en_US
dc.identifier.urihttp://hdl.handle.net/11536/128148-
dc.description.abstractBackground: Transport protein particle (TRAPP) is a multiprotein complex involved in endoplasmic reticulum-to-Golgi trafficking. Zebrafish with a mutation in the TRAPPC11 orthologue showed hepatomegaly with steatosis and defects in visual system development. In humans, TRAPPC11 mutations have been reported in only three families showing limb-girdle muscular dystrophy (LGMD) or myopathy with movement disorders and intellectual disability. Methods: We screened muscular dystrophy genes using next-generation sequencing and performed associated molecular and biochemical analyses in a patient with fatty liver and cataract in addition to infantile-onset muscle weakness. Results: We identified the first Asian patient with TRAPPC11 mutations. Muscle pathology demonstrated typical dystrophic changes and liver biopsy revealed steatosis. The patient carried compound heterozygous mutations of a previously reported missense and a novel splice-site mutation. The splice-site change produced two aberrantly-spliced transcripts that were both predicted to result in translational frameshift and truncated proteins. Full-length TRAPPC11 protein was undetectable on immunoblotting. Conclusion: This report widens the phenotype of TRAPPC11-opathy as the patient showed the following: (1) congenital muscular dystrophy phenotype rather than LGMD; (2) steatosis and infantile-onset cataract, both not observed in previously reported patients; but (3) no ataxia or abnormal movement, clearly indicating that TRAPPC11 plays a physiological role in multiple tissues in human.en_US
dc.language.isoen_USen_US
dc.subjectTransport protein particle (TRAPP)en_US
dc.subjectEndoplasmic reticulum-to-Golgi traffickingen_US
dc.subjectSteatosisen_US
dc.subjectCataracten_US
dc.subjectCongenital muscular dystrophyen_US
dc.titleCongenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotypeen_US
dc.typeArticleen_US
dc.identifier.doi10.1186/s13395-015-0056-4en_US
dc.identifier.journalSKELETAL MUSCLEen_US
dc.citation.volume5en_US
dc.citation.spage0en_US
dc.citation.epage0en_US
dc.contributor.department生醫工程研究所zh_TW
dc.contributor.departmentInstitute of Biomedical Engineeringen_US
dc.identifier.wosnumberWOS:000360108200001en_US
dc.citation.woscount21en_US
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