Large family X linked research - from Turkey

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Abstract from the International Journal of Neuroscience

2003;113(6):777-785

Clinical Case Study: CONNEXIN 32 MUTATION IN A TURKISH FAMILY WITH

X-LINKED

CHARCOT-MARIE-TOOTH DISEASE.

Sahin N, Tan M, Kalay E, Calapoglu M, Karaguzel A. BlackSea Technical

University, Medical School, Department of Medical Biology, Trabzon,

Turkey.

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 (271G-A). The results suggested relations between degenerative

processes and position of Cx32 mutations.