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


Sahin-Calapoglu N., Tan M., Soyoz M., CALAPOĞLU M., ÖZÇELİK N.

NEUROMOLECULAR MEDICINE, vol.11, no.2, pp.106-113, 2009 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 2
  • Publication Date: 2009
  • Doi Number: 10.1007/s12017-009-8062-5
  • Journal Name: NEUROMOLECULAR MEDICINE
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.106-113
  • Keywords: Charcot-Marie-Tooth neuropathy, Autosomal recessive, Axonal, Ganglioside-induced differentiation-associated protein-1, Mutation, MARIE-TOOTH-DISEASE, DIFFERENTIATION-ASSOCIATED PROTEIN-1, AUTOSOMAL RECESSIVE CMT, VOCAL CORD, GENE, NEUROPATHY, VARIABILITY, FEATURES, CELLS, S194X

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.