Literature DB >> 33746696

Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family.

Qian Chen1,2, Wen Zheng3, Hongbo Xu1, Yan Yang3, Zhi Song3, Lamei Yuan1,4, Hao Deng1,3,4.   

Abstract

Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal muscle weaknesses in the pelvic and shoulder girdles. This article describes an attempt to identify genetic cause(s) for a LGMD pedigree via a combination of whole exome sequencing and Sanger sequencing. Digenic variants, the titin gene (TTN) c.19481T>G (p.Leu6494Arg) and the trafficking protein particle complex 11 gene (TRAPPC11) c.3092C>G (p.Pro1031Arg), co-segregated with the disease phenotype in the family, suggesting their possible pathogenicity.
Copyright © 2021 Chen, Zheng, Xu, Yang, Song, Yuan and Deng.

Entities:  

Keywords:  digenic variants; exome sequencing; limb-girdle muscular dystrophies; the TRAPPC11 gene; the TTN gene

Year:  2021        PMID： 33746696      PMCID： PMC7969792          DOI： 10.3389/fnins.2021.601757

Source DB:  PubMed          Journal:  Front Neurosci        ISSN： 1662-453X            Impact factor:   4.677


  40 in total

Review 1.  A rising titan: TTN review and mutation update.

Authors:  Claire Chauveau; John Rowell; Ana Ferreiro
Journal:  Hum Mutat       Date:  2014-07-21       Impact factor: 4.878

Review 2.  Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Authors:  Ana Cotta; Elmano Carvalho; Antonio Lopes da-Cunha-Júnior; Júlia Filardi Paim; Monica M Navarro; Jaquelin Valicek; Miriam Melo Menezes; Simone Vilela Nunes; Rafael Xavier Neto; Reinaldo Issao Takata; Antonio Pedro Vargas
Journal:  Arq Neuropsiquiatr       Date:  2014-09       Impact factor: 1.420

3.  Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Authors:  Pushpa Narayanaswami; Michael Weiss; Duygu Selcen; William David; Elizabeth Raynor; Gregory Carter; Matthew Wicklund; Richard J Barohn; Erik Ensrud; Robert C Griggs; Gary Gronseth; Anthony A Amato
Journal:  Neurology       Date:  2014-10-14       Impact factor: 9.910

4.  Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.

Authors:  Wen Zheng; Han Chen; Xiong Deng; Lamei Yuan; Yan Yang; Zhi Song; Zhijian Yang; Yuan Wu; Hao Deng
Journal:  Mol Neurobiol       Date:  2015-09-21       Impact factor: 5.590

5.  Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S.

Authors:  Dominic B Fee; Matthew Harmelink; Priya Monrad; Erika Pyzik
Journal:  J Clin Neuromuscul Dis       Date:  2017-09

6.  Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Authors:  Leslie Matalonga; Miren Bravo; Carla Serra-Peinado; Elisabeth García-Pelegrí; Olatz Ugarteburu; Silvia Vidal; Maria Llambrich; Ester Quintana; Pedro Fuster-Jorge; Maria Nieves Gonzalez-Bravo; Sergi Beltran; Joaquin Dopazo; Francisco Garcia-Garcia; François Foulquier; Gert Matthijs; Philippa Mills; Antonia Ribes; Gustavo Egea; Paz Briones; Frederic Tort; Marisa Girós
Journal:  Hum Mutat       Date:  2016-11-26       Impact factor: 4.878

Review 7.  Titin mutations and muscle disease.

Authors:  Dalma Kellermayer; John E Smith; Henk Granzier
Journal:  Pflugers Arch       Date:  2019-03-27       Impact factor: 3.657

8.  Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Authors:  Samya Chakravorty; Babi Ramesh Reddy Nallamilli; Satish Vasant Khadilkar; Madhu Bala Singla; Ashish Bhutada; Rashna Dastur; Pradnya Satish Gaitonde; Laura E Rufibach; Logan Gloster; Madhuri Hegde
Journal:  Front Neurol       Date:  2020-11-05       Impact factor: 4.086

9.  Revised spectrum of mutations in sarcoglycanopathies.

Authors:  Madiha Trabelsi; Niloufar Kavian; Fatma Daoud; Virginie Commere; Nathalie Deburgrave; Caroline Beugnet; Stephane Llense; Jean Claude Barbot; Aurélie Vasson; Jean Claude Kaplan; France Leturcq; Jamel Chelly
Journal:  Eur J Hum Genet       Date:  2008-02-20       Impact factor: 4.246

Review 10.  Increasing Role of Titin Mutations in Neuromuscular Disorders.

Authors:  Marco Savarese; Jaakko Sarparanta; Anna Vihola; Bjarne Udd; Peter Hackman
Journal:  J Neuromuscul Dis       Date:  2016-08-30
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  1 in total

1.  Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.

Authors:  Guangyu Wang; Xiaoqing Lv; Ling Xu; Rui Zhang; Chuanzhu Yan; Pengfei Lin
Journal:  Neurol Sci       Date:  2022-03-03       Impact factor: 3.830
  1 in total

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