title: Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
abstract: A missense mutation in the neurofilament light chain gene (NEFL, NF-L) at chromosome 8p21 was recently reported in a single Charcot-Marie-Tooth type 2 family (CMT2). This new CMT2 variant is designated CMT2E. The NEFL gene mutation showed co-segregation with the disease phenotype and is thus most likely the disease-causing mutation. However, the possibility that it is a closely linked rare polymorphism can not be ruled out with certainty. We observed a novel NEFL missense mutation in a second CMT family, providing supporting evidence that CMT2E is caused by NEFL gene mutations.
authors.affiliation: Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, Division of Neurology, Belgium. dejonghe@uia.ua.ac.be
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: I
authors.initials: I
authors.lastname: Mersivanova
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: J
authors.initials: J
authors.lastname: Del Favero
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: O
authors.initials: O
authors.lastname: Evgrafov
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D016900:Neurofilament Proteins / Q000235:genetics*; D010375:Pedigree; D013997:Time Factors
chemical_list: D016900:Neurofilament Proteins