Please use this identifier to cite or link to this item: http://repositorio.unifesp.br/handle/11600/34929
Title: Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
Authors: Boehm, Johann
Biancalana, Valerie
DeChene, Elizabeth T.
Bitoun, Marc
Pierson, Christopher R.
Schaefer, Elise
Karasoy, Hatice
Dempsey, Melissa A.
Klein, Fabrice
Dondaine, Nicolas
Kretz, Christine
Haumesser, Nicolas
Poirson, Claire
Toussaint, Anne
Greenleaf, Rebecca S.
Barger, Melissa A.
Mahoney, Lane J.
Kang, Peter B.
Zanoteli, Edmar
Vissing, John
Witting, Nanna
Echaniz-Laguna, Andoni
Wallgren-Pettersson, Carina
Dowling, James
Merlini, Luciano
Oldfors, Anders
Ousager, Lilian Bomme
Melki, Judith
Krause, Amanda
Jern, Christina
Oliveira, Acary S. B. [UNIFESP]
Petit, Florence
Jacquette, Aurelia
Chaussenot, Annabelle
Mowat, David
Leheup, Bruno
Cristofano, Michele
Poza Aldea, Juan Jose
Michel, Fabrice
Furby, Alain
Barcena Llona, Jose E.
Van Coster, Rudy
Bertini, Enrico
Urtizberea, Jon Andoni
Drouin-Garraud, Valerie
Beroud, Christophe
Prudhon, Bernard
Bedford, Melanie
Mathews, Katherine
Erby, Lori A. H.
Smith, Stephen A.
Roggenbuck, Jennifer
Crowe, Carol A.
Spitale, Allison Brennan
Johal, Sheila C.
Amato, Anthony A.
Demmer, Laurie A.
Jonas, Jessica
Darras, Basil T.
Bird, Thomas D.
Laurino, Mercy
Welt, Selman I.
Trotter, Cynthia
Guicheney, Pascale
Das, Soma
Mandel, Jean-Louis
Beggs, Alan H.
Laporte, Jocelyn
Univ Strasbourg
Nouvel Hop Civil
Harvard Univ
Univ Paris 06
Ege Univ
Univ Chicago
Universidade de São Paulo (USP)
Univ Copenhagen
Hop Civil
Folkhalsan Inst Genet
Univ Helsinki
Univ Michigan
Inst Ortoped Rizzoli
Sahlgrens Univ Hosp
Odense Univ Hosp
Univ Paris 11
Univ Witwatersrand
Univ Gothenburg
Universidade Federal de São Paulo (UNIFESP)
Ctr Hosp Reg Univ
GH Pitie Salpetriere
Ctr Hosp Univ Nice
Sydney Childrens Hosp
CHU Nancy
Univ Lorraine
Azienda Osped Pisana
Hosp Donostia
CHU
Hop Nord St Etienne
Hosp Univ Cruces
Ghent Univ Hosp
Bambino Gesu Childrens Res Hosp
Hop Marin
Hop Rouen
INSERM
N York Gen Hosp
Univ Iowa
Johns Hopkins Bloomberg Sch Publ Hlth
Johns Hopkins Sch Med
Hennepin Cty Med Ctr
Gillette Childrens Specialty Healthcare
Childrens Hosp & Clin Minnesota
Case Western Reserve Univ
Tufts Med Ctr
Univ Washington
VA Med Ctr
Texas Tech Univ
Keywords: centronuclear myopathy
congenital myopathy
Charcot-Marie-Tooth neuropathy
DNM2
AD-CNM
CMTD1B
DI-CMTB
CMT2M
hereditary motor and sensory neuropathy type II
HMSNII
MTM1
myotubular myopathy
BIN1
RYR1
endocytosis
Issue Date: 1-Jun-2012
Publisher: Wiley-Blackwell
Citation: Human Mutation. Malden: Wiley-Blackwell, v. 33, n. 6, p. 949-959, 2012.
Abstract: Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. in total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. in addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. in this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33: 949-959, 2012. (C) 2012 Wiley Periodicals, Inc.
URI: http://repositorio.unifesp.br/handle/11600/34929
ISSN: 1059-7794
Other Identifiers: http://dx.doi.org/10.1002/humu.22067
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