標題: Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype
作者: Liang, Wen-Chen
Zhu, Wenhua
Mitsuhashi, Satomi
Noguchi, Satoru
Sacher, Michael
Ogawa, Megumu
Shih, Hsiang-Hung
Jong, Yuh-Jyh
Nishino, Ichizo
生醫工程研究所
Institute of Biomedical Engineering
關鍵字: Transport protein particle (TRAPP);Endoplasmic reticulum-to-Golgi trafficking;Steatosis;Cataract;Congenital muscular dystrophy
公開日期: 28-Aug-2015
摘要: Background: 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.
URI: http://dx.doi.org/10.1186/s13395-015-0056-4
http://hdl.handle.net/11536/128148
ISSN: 2044-5040
DOI: 10.1186/s13395-015-0056-4
期刊: SKELETAL MUSCLE
Volume: 5
起始頁: 0
結束頁: 0
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