BACKGROUND: Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant intermediate (demyelinating and axonal) Charcot-Marie-Tooth disease (CMT) type B. OBJECTIVE: To assess the etiologic role of DNM2 in CMT. METHODS: We performed a mutational screening of DNM2 exons 13 through 16 encoding the pleckstrin homology domain in a large series of CMT patients with a broad range of nerve conduction velocities and without mutations in more common genes. RESULTS: We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy. CONCLUSION: Patients with axonal Charcot-Marie-Tooth disease type 2 neuropathy without mutations in more common genes should undergo investigation for DNM2 pleckstrin homology.
BACKGROUND: Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant intermediate (demyelinating and axonal) Charcot-Marie-Tooth disease (CMT) type B. OBJECTIVE: To assess the etiologic role of DNM2 in CMT. METHODS: We performed a mutational screening of DNM2 exons 13 through 16 encoding the pleckstrin homology domain in a large series of CMT patients with a broad range of nerve conduction velocities and without mutations in more common genes. RESULTS: We identified two novel DNM2 mutations that cosegregated with purely axonal CMT in two pedigrees without clinical evidence of primary myopathy. CONCLUSION: Patients with axonal Charcot-Marie-Tooth disease type 2 neuropathy without mutations in more common genes should undergo investigation for DNM2 pleckstrin homology.
Authors: 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; Lilian Bomme Ousager; Judith Melki; Amanda Krause; Christina Jern; 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 Journal: Hum Mutat Date: 2012-04-04 Impact factor: 4.878
Authors: Elena Gallardo; Kristl G Claeys; Eva Nelis; Antonio García; Ana Canga; Onofre Combarros; Vincent Timmerman; Peter De Jonghe; José Berciano Journal: J Neurol Date: 2008-06-17 Impact factor: 4.849
Authors: Elena Gallardo; Antonio García; César Ramón; Elías Maraví; Jon Infante; Itziar Gastón; Ángel Alonso; Onofre Combarros; Peter De Jonghe; José Berciano Journal: J Neurol Date: 2009-12 Impact factor: 4.849