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Göteborgs universitets publikationer

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Författare och institution:
Johann Böhm (-); Valérie Biancalana (-); Elizabeth T Dechene (-); Marc Bitoun (-); Christopher R Pierson (-); Elise Schaefer (-); Hatice Karasoy (-); Melissa A Dempsey (-); Fabrice Klein (-); Nicolas Dondaine (-); Christine Kretz (-); Nicolas Haumesser (-); Claire Poirson (-); Anne Toussaint (-); Rebecca S Greenleaf (-); Melissa A Barger (-); Lane J Mahoney (-); Peter B Kang (-); Edmar Zanoteli (-); John Vissing (-); Nanna Witting (-); Andoni Echaniz-Laguna (-); Carina Wallgren-Pettersson (-); James Dowling (-); Luciano Merlini (-); Anders Oldfors (Institutionen för biomedicin, avdelningen för patologi); Lilian Bomme Ousager (-); Judith Melki (-); Amanda Krause (-); Christina Jern (Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik); Acary S B Oliveira (-); Florence Petit (-); Aurélia Jacquette (-); Annabelle Chaussenot (-); David Mowat (-); Bruno Leheup (-); Michele Cristofano (-); Juan José Poza Aldea (-); Fabrice Michel (-); Alain Furby (-); Jose E Barcena Llona (-); Rudy Van Coster (-); Enrico Bertini (-); Jon Andoni Urtizberea (-); Valérie Drouin-Garraud (-); Christophe Béroud (-); Bernard Prudhon (-); Melanie Bedford (-); Katherine Mathews (-); Lori A H Erby (-); Stephen A Smith (-); Jennifer Roggenbuck (-); Carol A Crowe (-); Allison Brennan Spitale (-); Sheila C Johal (-); Anthony A Amato (-); Laurie A Demmer (-); Jessica Jonas (-); Basil T Darras (-); Thomas D Bird (-); Mercy Laurino (-); Selman I Welt (-); Cynthia Trotter (-); Pascale Guicheney (-); Soma Das (-); Jean-Louis Mandel (-); Alan H Beggs (-); Jocelyn Laporte (-)
Publicerad i:
Human mutation, 33 ( 6 ) s. 949-59
Artikel, refereegranskad vetenskaplig
Sammanfattning (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.
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
Klinisk medicin
Amino Acid Sequence, Dynamin II, chemistry, genetics, Genes, Dominant, Genetic Association Studies, Humans, Molecular Sequence Data, Mutation, Myopathies, Structural, Congenital, diagnosis, genetics, Polymorphism, Genetic, Sequence Alignment
Postens nummer:
Posten skapad:
2014-01-05 13:43

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