AR CMT 2K: Novel GDAP1 Mutation in a Turkish Family with Novel GDAP1 Mutation

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Neuromolecular Med. 2009 Apr 19.

Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1

Mutation).

Sahin-Calapoglu N, Tan M, Soyoz M, Calapoglu M, Ozcelik N.

Department of Medical Biology, Faculty of Medicine, Suleyman Demirel University,

32260 Cunur, Isparta, Turkey

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.