Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease

Sahin N. , TAN M., KALAY E., Calapoglu M. , KARAGÜZEL A.

INTERNATIONAL JOURNAL OF NEUROSCIENCE, cilt.113, sa.6, ss.777-785, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 113 Konu: 6
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1080/00207450390200972
  • Sayfa Sayıları: ss.777-785


In the present work, we describe a large Turkish family (N=39) with Charcot-Marie-Tooth disease, which is the most commonly inherited peripheral neuropathy. The subjects were from four generations, including six hemizygote patients and nine heterozygote carrier females: Symptoms appeared in late childhood in males (mean age=13.5) but later in carrier females (mean age=33.5). The peripheral nerve conduction was more severely affected in males than females. Genomic DNA was isolated from peripheral white blood cells. Using SSCP technique (single strand conformation polymorphism analysis); abnormal patterns of migration were observed in 15 subjects: 6 of them were hemizygote males and 9 were heterozygote carrier females. We identified a mutation of the Cx32 gene, consisting of a guanine to adenine transition at position 271 (271 G-A). The results suggested relations between degenerative processes and position of Cx32 mutations.