Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

Neuromuscular Disorders : NMD
Heinz JungbluthFrancesco Muntoni

Abstract

Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT). Whilst DNM2-related CMT may feature non-neurological findings including cataracts, this has not been reported in DNM2-related centronuclear myopathy. We report a girl presenting from birth with hypotonia, respiratory and feeding difficulties. Motor development was delayed and at 9years she lost the ability to walk. She had ptosis, external ophthalmoplegia and bilateral cataracts. Muscle biopsy showed increase in central nuclei with type 1 hypotrophy and fibrosis. DNM2 screening revealed a novel heterozygous substitution (c.1862T>C; p.Leu621Pro) affecting the PH domain of the protein. Her further course was progressive and at 14years she died from respiratory failure. Our findings expand the phenotypical spectrum associated with DNM2 mutations and provide a new clinical indicator for involvement of this gene in patients with centronuclear myopathy.

References

Aug 1, 1975·Journal of Neurology, Neurosurgery, and Psychiatry·C H Hawkes, M J Absolon
Feb 26, 2005·Nature Genetics·Mark A McNiven
Oct 18, 2005·Nature Genetics·Marc BitounPascale Guicheney
Dec 1, 2006·Neuromuscular Disorders : NMD·Joachim SchesslCarsten G Bönnemann
Mar 23, 2007·Neuromuscular Disorders : NMD·Heinz JungbluthFrancesco Muntoni
Oct 13, 2007·Annals of Neurology·Marc BitounPascale Guicheney
Jan 29, 2008·Brain : a Journal of Neurology·Vanessa J DaviesMarcela Votruba
Sep 27, 2008·Orphanet Journal of Rare Diseases·Heinz JungbluthJocelyn Laporte
Apr 25, 2009·The International Journal of Biochemistry & Cell Biology·Patrizia Amati-BonneauPascal Reynier

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Citations

Jun 10, 2010·The Journal of Biological Chemistry·Lei WangJoseph P Albanesi
Aug 14, 2013·Revue neurologique·A Echaniz-LagunaJ Laporte
Mar 29, 2014·Muscle & Nerve·Barbara K SmithMartin K Childers
Feb 15, 2015·Biochimica Et Biophysica Acta·Mark G Waugh
Jan 25, 2014·Neuromuscular Disorders : NMD·Kathryn N NorthUNKNOWN International Standard of Care Committee for Congenital Myopathies
Jan 31, 2015·Neuromuscular Disorders : NMD·Olivera Casar-BorotaAnders Oldfors
Jan 8, 2015·Frontiers in Aging Neuroscience·Heinz Jungbluth, Mathias Gautel
Aug 16, 2016·Seminars in Cell & Developmental Biology·Heinz JungbluthMathias Gautel
Dec 16, 2016·Neuropathology and Applied Neurobiology·C A Sewry, C Wallgren-Pettersson
Nov 7, 2017·Muscle & Nerve·Amro M Stino, Stanley J Iyadurai
Jan 24, 2018·European Journal of Human Genetics : EJHG·Claudia CastiglioniGiorgio Tasca
Feb 3, 2018·Nature Reviews. Neurology·Heinz JungbluthFrancesco Muntoni
Dec 17, 2017·EMBO Molecular Medicine·Delphine TrochetMarc Bitoun
Aug 19, 2016·Current Opinion in Neurology·Heinz Jungbluth, Nicol C Voermans
Apr 4, 2021·Biology·Govinda SharmaTimothy E Shutt
Sep 1, 2021·Clinical Genetics·Stacha F I ReumersNicol C Voermans

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