Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorBIANCALANA, Valerie
dc.contributor.authorSCHEIDECKER, Sophie
dc.contributor.authorMIGUET, Marguerite
dc.contributor.authorLAQUERRIERE, Annie
dc.contributor.authorROMERO, Norma B.
dc.contributor.authorSTOJKOVIC, Tanya
dc.contributor.authorNETO, Osorio Abath
dc.contributor.authorMERCIER, Sandra
dc.contributor.authorVOERMANS, Nicol
dc.contributor.authorTANNER, Laura
dc.contributor.authorROGERS, Curtis
dc.contributor.authorOLLAGNON-ROMAN, Elisabeth
dc.contributor.authorROPER, Helen
dc.contributor.authorBOUTTE, Celia
dc.contributor.authorBEN-SHACHAR, Shay
dc.contributor.authorLORNAGE, Xaviere
dc.contributor.authorVASLI, Nasim
dc.contributor.authorSCHAEFER, Elise
dc.contributor.authorLAFORET, Pascal
dc.contributor.authorPOUGET, Jean
dc.contributor.authorMOERMAN, Alexandre
dc.contributor.authorPASQUIER, Laurent
dc.contributor.authorMARCORELLE, Pascale
dc.contributor.authorMAGOT, Armelle
dc.contributor.authorKUSTERS, Benno
dc.contributor.authorSTREICHENBERGER, Nathalie
dc.contributor.authorTRANCHANT, Christine
dc.contributor.authorDONDAINE, Nicolas
dc.contributor.authorSCHNEIDER, Raphael
dc.contributor.authorGASNIER, Claire
dc.contributor.authorCALMELS, Nadege
dc.contributor.authorKREMER, Valerie
dc.contributor.authorNGUYEN, Karine
dc.contributor.authorPERRIER, Julie
dc.contributor.authorKAMSTEEG, Erik Jan
dc.contributor.authorCARLIER, Pierre
dc.contributor.authorCARLIER, Robert-Yves
dc.contributor.authorTHOMPSON, Julie
dc.contributor.authorBOLAND, Anne
dc.contributor.authorDELEUZE, Jean-Francois
dc.contributor.authorFARDEAU, Michel
dc.contributor.authorZANOTELI, Edmar
dc.contributor.authorEYMARD, Bruno
dc.contributor.authorLAPORTE, Jocelyn
dc.date.accessioned2017-12-12T13:18:01Z
dc.date.available2017-12-12T13:18:01Z
dc.date.issued2017
dc.description.abstractX-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported. To assess the phenotypic and pathological spectra of carrier females and to delineate diagnostic clues, we characterized 17 new unrelated affected females and performed a detailed comparison with previously reported cases at the clinical, muscle imaging, histological, ultrastructural and molecular levels. Taken together, the analysis of this large cohort of 43 cases highlights a wide spectrum of clinical severity ranging from severe neonatal and generalized weakness, similar to XLMTM male, to milder adult forms. Several females show a decline in respiratory function. Asymmetric weakness is a noteworthy frequent specific feature potentially correlated to an increased prevalence of highly skewed X inactivation. Asymmetry of growth was also noted. Other diagnostic clues include facial weakness, ptosis and ophthalmoplegia, skeletal and joint abnormalities, and histopathological signs that are hallmarks of centronuclear myopathy such as centralized nuclei and necklace fibers. The histopathological findings also demonstrate a general disorganization of muscle structure in addition to these specific hallmarks. Thus, MTM1 mutations in carrier females define a specific myopathy, which may be independent of the presence of an XLMTM male in the family. As several of the reported affected females carry large heterozygous MTM1 deletions not detectable by Sanger sequencing, and as milder phenotypes present as adult-onset limb-girdle myopathy, the prevalence of this myopathy is likely to be greatly underestimated. This report should aid diagnosis and thus the clinical management and genetic counseling of MTM1 carrier females. Furthermore, the clinical and pathological history of this cohort may be useful for therapeutic projects in males with XLMTM, as it illustrates the spectrum of possible evolution of the disease in patients surviving long term.
dc.description.indexMEDLINE
dc.description.sponsorshipInstitut National de la Sante et de la Recherche Medicale (INSERM)
dc.description.sponsorshipCentre National de la Recherche Scientifique (CNRS)
dc.description.sponsorshipUniversity of Strasbourg
dc.description.sponsorshipFrance Genomique National infrastructure as part of the Investissements d'Avenir program [ANR-10-INBS-09]
dc.description.sponsorshipFondation Maladies Rares under the frame program Investissements d'Avenir [ANR-10-LABX-0030-INRT, ANR-10-IDEX-0002-02]
dc.description.sponsorshipFondation pour la Recherche Medicale [DBI20131228569]
dc.description.sponsorshipAFM [AFM-16992]
dc.description.sponsorshipCREGEMES
dc.identifier.citationACTA NEUROPATHOLOGICA, v.134, n.6, p.889-904, 2017
dc.identifier.doi10.1007/s00401-017-1748-0
dc.identifier.eissn1432-0533
dc.identifier.issn0001-6322
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/24287
dc.language.isoeng
dc.publisherSPRINGER
dc.relation.ispartofActa Neuropathologica
dc.rightsrestrictedAccess
dc.rights.holderCopyright SPRINGER
dc.subjectMTM1
dc.subjectX-linked myotubular myopathy
dc.subjectCentronuclear myopathy
dc.subjectCongenital myopathy
dc.subjectX inactivation
dc.subject.otherlinked myotubular myopathy
dc.subject.otherx-chromosome-inactivation
dc.subject.otherdominant centronuclear myopathy
dc.subject.othercontiguous gene syndrome
dc.subject.othernecklace fibers
dc.subject.othercongenital myopathies
dc.subject.othermale hypogenitalism
dc.subject.otherprolongs survival
dc.subject.otherpeliosis hepatis
dc.subject.otherryr1 mutations
dc.subject.wosClinical Neurology
dc.subject.wosNeurosciences
dc.subject.wosPathology
dc.titleAffected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryIsrael
hcfmusp.affiliation.countryInglaterra
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryFinlândia
hcfmusp.affiliation.countryHolanda
hcfmusp.affiliation.countryFrança
hcfmusp.affiliation.countryisofr
hcfmusp.affiliation.countryisonl
hcfmusp.affiliation.countryisofi
hcfmusp.affiliation.countryisous
hcfmusp.affiliation.countryisogb
hcfmusp.affiliation.countryisoil
hcfmusp.author.externalBIANCALANA, Valerie:Nouvel Hop Civil, CHRU, Fac Med, Lab Diagnost Genet, 1 Pl Hop, F-67091 Strasbourg, France; Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France; CNRS, UMR7104, Illkirch Graffenstaden, France; INSERM, U964, Illkirch Graffenstaden, France; Univ Strasbourg, Federat Med Translationnelle Strasbourg, Illkirch Graffenstaden, France
hcfmusp.author.externalSCHEIDECKER, Sophie:Nouvel Hop Civil, CHRU, Fac Med, Lab Diagnost Genet, 1 Pl Hop, F-67091 Strasbourg, France
hcfmusp.author.externalMIGUET, Marguerite:Nouvel Hop Civil, CHRU, Fac Med, Lab Diagnost Genet, 1 Pl Hop, F-67091 Strasbourg, France
hcfmusp.author.externalLAQUERRIERE, Annie:Normandie Univ, Rouen Univ Hosp, INSERM, UNIROUE,Dept Pathol,U1245, F-76000 Rouen, France
hcfmusp.author.externalROMERO, Norma B.:UPMC Univ Paris 06, Sorbonne Univ, GH Pitie Salpetriere,Ctr Res Myology, INSERM,CNRS,FRE3617,UMRS974, Paris, France; GHU Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France
hcfmusp.author.externalSTOJKOVIC, Tanya:GHU Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France
hcfmusp.author.externalMERCIER, Sandra:CHU, Unite Genet Clin, Serv Genet Med, Nantes, France; Univ Nantes, Atlantic Gene Therapy Inst, Nantes, France; CHU Nantes, Ctr Reference Malad Neuromusculaires Nantes Anger, Nantes, France
hcfmusp.author.externalVOERMANS, Nicol:Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Nijmegen, Netherlands
hcfmusp.author.externalTANNER, Laura:Univ Hosp, Dept Clin Genet, Turku, Finland
hcfmusp.author.externalROGERS, Curtis:Greenwood Genet Ctr, Greenwood, SC 29646 USA
hcfmusp.author.externalOLLAGNON-ROMAN, Elisabeth:Hop Croix Rousse, Serv Genet Neurogenet & Med Predict, Lyon, France
hcfmusp.author.externalROPER, Helen:Heartlands Hosp, Birmingham, W Midlands, England
hcfmusp.author.externalBOUTTE, Celia:CHU Grenoble, Pole Psychiat & Neurol, Grenoble, France
hcfmusp.author.externalBEN-SHACHAR, Shay:Tel Aviv Univ, Sourasky Med Ctr, Tel Aviv, Israel
hcfmusp.author.externalLORNAGE, Xaviere:Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France; CNRS, UMR7104, Illkirch Graffenstaden, France; INSERM, U964, Illkirch Graffenstaden, France; Univ Strasbourg, Federat Med Translationnelle Strasbourg, Illkirch Graffenstaden, France
hcfmusp.author.externalVASLI, Nasim:Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France; CNRS, UMR7104, Illkirch Graffenstaden, France; INSERM, U964, Illkirch Graffenstaden, France
hcfmusp.author.externalSCHAEFER, Elise:CHU Strasbourg, Hop Hautepierre, Serv Genet Med, Strasbourg, France
hcfmusp.author.externalLAFORET, Pascal:Grp Hosp Univ Pitie Salpetriere, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France
hcfmusp.author.externalPOUGET, Jean:Aix Marseille Univ, Univ Hosp La Timone, AP HM, Natl Ctr Expertise Neuromuscular Disorders, Marseille, France
hcfmusp.author.externalMOERMAN, Alexandre:Hop Jeanne Flandre, CHRU Lille, Serv Genet Clin, Lille, France
hcfmusp.author.externalPASQUIER, Laurent:Hop Sud, CHU Rennes, Serv Genet Clin, Rennes, France
hcfmusp.author.externalMARCORELLE, Pascale:CHRU Brest, Ctr Competence Breton Malad Neuromusculaires, Serv Anat & Cytol Patholog, Brest, France; Univ Bretagne Occidentale, EA LNB 4586, Brest, France
hcfmusp.author.externalMAGOT, Armelle:CHU Nantes, Ctr Reference Malad Neuromusculaires Nantes Anger, Nantes, France
hcfmusp.author.externalKUSTERS, Benno:Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlands
hcfmusp.author.externalSTREICHENBERGER, Nathalie:Univ Claude Bernard Lyon1, Hosp Civils Lyon, Inst NeuroMyogene, CNRS,INSERM,UMR 5310,U1217, Lyon, France
hcfmusp.author.externalTRANCHANT, Christine:Hop Hautepierre, CHU Strasbourg, Neurol, Strasbourg, France
hcfmusp.author.externalDONDAINE, Nicolas:Nouvel Hop Civil, CHRU, Fac Med, Lab Diagnost Genet, 1 Pl Hop, F-67091 Strasbourg, France
hcfmusp.author.externalSCHNEIDER, Raphael:Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France; CNRS, UMR7104, Illkirch Graffenstaden, France; INSERM, U964, Illkirch Graffenstaden, France; Univ Strasbourg, Federat Med Translationnelle Strasbourg, Illkirch Graffenstaden, France; CSTB Complex Syst & Translat Bioinformat, Fac Med, ICube, UMR7357, Strasbourg, France
hcfmusp.author.externalGASNIER, Claire:Nouvel Hop Civil, CHRU, Fac Med, Lab Diagnost Genet, 1 Pl Hop, F-67091 Strasbourg, France
hcfmusp.author.externalCALMELS, Nadege:Nouvel Hop Civil, CHRU, Fac Med, Lab Diagnost Genet, 1 Pl Hop, F-67091 Strasbourg, France
hcfmusp.author.externalKREMER, Valerie:Hop Hautepierre, CHU Strasbourg, Serv Cytogenet Constitutionnelle & Prenatale, Strasbourg, France
hcfmusp.author.externalNGUYEN, Karine:Aix Marseille Univ, Timone Hosp, GMGF, APHM,Dept Med Genet, Marseille, France
hcfmusp.author.externalKAMSTEEG, Erik Jan:Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
hcfmusp.author.externalCARLIER, Pierre:Grp Hosp Univ Pitie Salpetriere, Inst Myol, Lab Resonnance Magnet, Paris, France
hcfmusp.author.externalCARLIER, Robert-Yves:Hop Raymond Poincare, Serv Radiol, Garches, France
hcfmusp.author.externalTHOMPSON, Julie:CSTB Complex Syst & Translat Bioinformat, Fac Med, ICube, UMR7357, Strasbourg, France
hcfmusp.author.externalDELEUZE, Jean-Francois:CEA, Inst Biol Francois Jacobs, CNRGH, Evry, France
hcfmusp.author.externalFARDEAU, Michel:UPMC Univ Paris 06, Sorbonne Univ, GH Pitie Salpetriere,Ctr Res Myology, INSERM,CNRS,FRE3617,UMRS974, Paris, France; GHU Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Paris, France
hcfmusp.author.externalLAPORTE, Jocelyn:Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France; CNRS, UMR7104, Illkirch Graffenstaden, France; INSERM, U964, Illkirch Graffenstaden, France; Univ Strasbourg, Federat Med Translationnelle Strasbourg, Illkirch Graffenstaden, France
hcfmusp.citation.scopus43
hcfmusp.contributor.author-fmusphcOSORIO LOPES ABATH NETO
hcfmusp.contributor.author-fmusphcEDMAR ZANOTELI
hcfmusp.description.beginpage889
hcfmusp.description.endpage904
hcfmusp.description.issue6
hcfmusp.description.volume134
hcfmusp.origemWOS
hcfmusp.origem.pubmed28685322
hcfmusp.origem.scopus2-s2.0-85021902559
hcfmusp.origem.wosWOS:000414162800005
hcfmusp.publisher.cityNEW YORK
hcfmusp.publisher.countryUSA
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