Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype

Skeletal Muscle
Wen-Chen LiangIchizo Nishino

Abstract

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. 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. 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. This report widens the phenotype of TRAPPC11-opathy as the patient showed the following: (1) congeni...Continue Reading

References

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Citations

Aug 16, 2016·Seminars in Cell & Developmental Biology·Gianina RavenscroftNigel G Laing
May 21, 2016·Clinical Genetics·D MassalskaT Roszkowski
Nov 20, 2016·Human Mutation·Leslie MatalongaMarisa Girós
May 26, 2017·Journal of Cell Science·Silvia Ramírez-PeinadoJan H Reiling
Jan 20, 2018·Muscle & Nerve·Teerin Liewluck, Margherita Milone
Aug 19, 2018·Journal of Medical Genetics·Miroslav P MilevPeter M van Hasselt
Aug 23, 2017·Journal of Clinical Neuromuscular Disease·Dominic B FeeErika Pyzik
Aug 15, 2018·Case Reports in Genetics·Xike WangYuchuan Wang
Apr 17, 2020·Disease Models & Mechanisms·Alon DayaDavid Karasik
Sep 26, 2020·Biomolecules·Maximilian Breuer, Shunmoogum A Patten
Jun 27, 2021·Journal of Pediatric Gastroenterology and Nutrition·Rossella ColantuonoClaudia Mandato
Oct 15, 2021·Neuropathology and Applied Neurobiology·Pinki MunotFrancesco Muntoni

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Methods Mentioned

BETA
biopsy

Software Mentioned

Ion [UNK] Designer

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