Literature DB >> 30642740

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Lois Dankwa1, Jessica Richardson1, William W Motley2, Mena Scavina3, Steve Courel4, Tanya Bardakjian5, Stephan Züchner4, Steven S Scherer6.   

Abstract

Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family. In affected family members, electromyography showed moderate to severe, chronic denervation in distal muscles. Such variable clinical severity highlights the need to do careful assessments of at risk individuals when assessing MFN2 variants.
Copyright © 2018 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  CMT2A; Charcot-Marie-Tooth disease Type 2; Late-onset axonal neuropathy; Multigenerational affection; Variable penetrance

Mesh：

Substances：

Year:  2018        PMID： 30642740      PMCID： PMC6415944          DOI： 10.1016/j.nmd.2018.12.008

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  14 in total

1.  Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Stephan Züchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret A Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery M Vance; Esra Battologlu
Journal:  Nat Genet       Date:  2004-04-04       Impact factor: 38.330

2.  The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

Authors:  Cécile Rouzier; Sylvie Bannwarth; Annabelle Chaussenot; Arnaud Chevrollier; Annie Verschueren; Nathalie Bonello-Palot; Konstantina Fragaki; Aline Cano; Jean Pouget; Jean-François Pellissier; Vincent Procaccio; Brigitte Chabrol; Véronique Paquis-Flucklinger
Journal:  Brain       Date:  2011-12-20       Impact factor: 13.501

3.  A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

Authors:  Heather M McLaughlin; Reiko Sakaguchi; William Giblin; Thomas E Wilson; Leslie Biesecker; James R Lupski; Kevin Talbot; Jeffery M Vance; Stephan Züchner; Yi-Chung Lee; Marina Kennerson; Ya-Ming Hou; Garth Nicholson; Anthony Antonellis
Journal:  Hum Mutat       Date:  2011-11-09       Impact factor: 4.878

4.  A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.

Authors:  M Muglia; G Vazza; A Patitucci; M Milani; D Pareyson; F Taroni; A Quattrone; M L Mostacciuolo
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-11       Impact factor: 10.154

5.  Innovative genomic collaboration using the GENESIS (GEM.app) platform.

Authors:  Michael Gonzalez; Marni J Falk; Xiaowu Gai; Richard Postrel; Rebecca Schüle; Stephan Zuchner
Journal:  Hum Mutat       Date:  2015-08-12       Impact factor: 4.878

6.  MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Authors:  Kristien Verhoeven; Kristl G Claeys; Stephan Züchner; J Michael Schröder; Joachim Weis; Chantal Ceuterick; Albena Jordanova; Eva Nelis; Els De Vriendt; Matthias Van Hul; Pavel Seeman; Radim Mazanec; Gulam Mustafa Saifi; Kinga Szigeti; Pedro Mancias; Ian J Butler; Andrzej Kochanski; Barbara Ryniewicz; Jan De Bleecker; Peter Van den Bergh; Christine Verellen; Rudy Van Coster; Nathalie Goemans; Michaela Auer-Grumbach; Wim Robberecht; Vedrana Milic Rasic; Yoram Nevo; Ivajlo Tournev; Velina Guergueltcheva; Filip Roelens; Peter Vieregge; Paolo Vinci; Maria Teresa Moreno; H-J Christen; Michael E Shy; James R Lupski; Jeffery M Vance; Peter De Jonghe; Vincent Timmerman
Journal:  Brain       Date:  2006-05-19       Impact factor: 13.501

7.  De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

Authors:  William W Motley; Paulius Palaima; Sabrina W Yum; Michael A Gonzalez; Feifei Tao; Julia V Wanschitz; Alleene V Strickland; Wolfgang N Löscher; Els De Vriendt; Stefan Koppi; Livija Medne; Andreas R Janecke; Albena Jordanova; Stephan Zuchner; Steven S Scherer
Journal:  Brain       Date:  2016-03-23       Impact factor: 13.501

8.  Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Authors:  Sinéad M Murphy; David N Herrmann; Michael P McDermott; Steven S Scherer; Michael E Shy; Mary M Reilly; Davide Pareyson
Journal:  J Peripher Nerv Syst       Date:  2011-09       Impact factor: 3.494

9.  CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Authors:  V Fridman; B Bundy; M M Reilly; D Pareyson; C Bacon; J Burns; J Day; S Feely; R S Finkel; T Grider; C A Kirk; D N Herrmann; M Laurá; J Li; T Lloyd; C J Sumner; F Muntoni; G Piscosquito; S Ramchandren; R Shy; C E Siskind; S W Yum; I Moroni; E Pagliano; S Zuchner; S S Scherer; M E Shy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-11-27       Impact factor: 10.154

10.  Control of mitochondrial morphology by a human mitofusin.

Authors:  A Santel; M T Fuller
Journal:  J Cell Sci       Date:  2001-03       Impact factor: 5.285
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  5 in total

1.  Plasticity in salt bridge allows fusion-competent ubiquitylation of mitofusins and Cdc48 recognition.

Authors:  Vincent Anton; Ira Buntenbroich; Ramona Schuster; Felix Babatz; Tânia Simões; Selver Altin; Gaetano Calabrese; Jan Riemer; Astrid Schauss; Mafalda Escobar-Henriques
Journal:  Life Sci Alliance       Date:  2019-11-18

2.  CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.

Authors:  Silvana Guerriero; Francesco D'Oria; Giacomo Rossetti; Rosa Anna Favale; Stefano Zoccolella; Giovanni Alessio; Vittoria Petruzzella
Journal:  Int Med Case Rep J       Date:  2020-02-20

3.  Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Authors:  Menelaos Pipis; Shawna M E Feely; James M Polke; Mariola Skorupinska; Laura Perez; Rosemary R Shy; Matilde Laura; Jasper M Morrow; Isabella Moroni; Chiara Pisciotta; Franco Taroni; Dragan Vujovic; Thomas E Lloyd; Gyula Acsadi; Sabrina W Yum; Richard A Lewis; Richard S Finkel; David N Herrmann; John W Day; Jun Li; Mario Saporta; Reza Sadjadi; David Walk; Joshua Burns; Francesco Muntoni; Sindhu Ramchandren; Rita Horvath; Nicholas E Johnson; Stephan Züchner; Davide Pareyson; Steven S Scherer; Alexander M Rossor; Michael E Shy; Mary M Reilly
Journal:  Brain       Date:  2020-12-01       Impact factor: 13.501

Review 4.  The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.

Authors:  Mashiat Zaman; Timothy E Shutt
Journal:  Front Cell Dev Biol       Date:  2022-03-24

Review 5.  Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders.

Authors:  Mode Al Ojaimi; Azza Salah; Ayman W El-Hattab
Journal:  Membranes (Basel)       Date:  2022-09-16
  5 in total

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