title: Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).
abstract: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes. It has been screened in this study for the presence of mutations in the coding region of GDAP1, which maps to chromosome 8q21, in a family with CMT2. To date, 29 mutations in the GDAP1 have been reported in patients of different ethnic origins. Here, we report a novel missense mutation (c.836A>G), and two polymorphisms: a silent variant (c.102G>C), and a 5'-splice site mutation (IVS5+24C>T) in GDPA1 gene identified in a five generation Turkish family with autosomal recessive CMT2.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Suleyman Demirel University, 32260 Cunur, Isparta, Turkey. nilufersahin@yahoo.com
authors.forename: Nilufer
authors.initials: N
authors.lastname: Sahin-Calapoglu
authors.forename: Meliha
authors.initials: M
authors.lastname: Tan
authors.forename: Mustafa
authors.initials: M
authors.lastname: Soyoz
authors.forename: Mustafa
authors.initials: M
authors.lastname: Calapoglu
authors.forename: Nurten
authors.initials: N
authors.lastname: Ozcelik
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000328:Adult; D017668:Age of Onset; D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004594:Electrophysiology; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011110:Polymorphism, Genetic; D014421:Turkey
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins