title: A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
abstract: Mutations in the gene coding for ganglioside-induced differentiation-associated protein-1 (GDAP1), which maps to chromosome 8q21, have been described in families with autosomal recessive Charcot-Marie-Tooth disease (CMT4A). Interestingly, some mutations in the GDAP1 gene have been reported in the demyelinating form of CMT1 disease, whereas others were found in patients with the axonal type of CMT disease. So far, 23 mutations in the GDAP1 gene have been reported in patients of different ethnic origins. In this study we report a novel mutation Met116Thr in the GDAP1 gene identified in a three generation Polish family with axonal CMT4.
authors.affiliation: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawińskiego 5, 02-106 Warsaw, Poland.
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzińska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
authors.forename: Hanna
authors.initials: H
authors.lastname: Drac
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Rowińska-Marcińska
authors.forename: Barbara
authors.initials: B
authors.lastname: Ryniewicz
authors.forename: Laia
authors.initials: L
authors.lastname: Pedrola
authors.forename: Francesc
authors.initials: F
authors.lastname: Palau
authors.forename: Irena
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D000328:Adult; D000818:Animals; D019556:COS Cells / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002522:Chlorocebus aethiops; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D015870:Gene Expression / Q000502:physiology; D049452:Green Fluorescent Proteins / Q000378:metabolism; D006801:Humans; D007211:Indoles; D008297:Male; D008715:Methionine / Q000235:genetics*; D046529:Microscopy, Electron, Transmission / Q000379:methods; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D011044:Poland; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D013912:Threonine / Q000235:genetics*; D014162:Transfection / Q000379:methods
chemical_list: C118663:GDAP protein; D007211:Indoles; D009419:Nerve Tissue Proteins; D049452:Green Fluorescent Proteins; D013912:Threonine; C007293:DAPI; D008715:Methionine