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NEUROLOGY 1996;47:541-544
© 1996 American Academy of Neurology

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

V. V. Ionasescu, MD, MD, Ch. Searby, BS, R. Ionasescu, MD, I. M. Neuhaus, MS and R. Werner, PhD

From the Department of Pediatrics (Dr. V. Ionasescu, Ch. Searby, and Dr. R. Ionasescu), Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA; and the Department of Biochemistry and Molecular Biology (I. Neuhaus and Dr. Werner), University of Miami, School of Medicine, Miami, FL.
Supported in part by a research grant from the Muscular Dystrophy Association of America to V.I. and by NIH grant GM40583 to R.W.
Received September 1, 1995. Accepted in final form December 1, 1995.
Address correspondence and reprint requests to Dr. Victor Ionasescu, Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals and Clinics, Iowa City, IA 52240.

We studied two families with X-linked dominant Charcot-Marie-Tooth neuropathy. The clinical findings included onset around age 14 years, with moderate weakness of feet extensors and palmar and dorsal interossei, areflexia, distal hypesthesia, and slow progressivity. Motor nerve conduction velocities showed slowing (20 to 30 m/sec) and EMGs were normal. Genetic linkage analysis revealed positive lod scores with the markers of the Xq13.1 region in family 2, but was noninformative in family 1. There were no point mutations in the connexin32 gene coding region. Instead, family 1 revealed a T-to-G transversion at position -528 relative to the ATG start codon, whereas family 2 showed a C-to-T transition at position -458. The first mutation is located in the nerve-specific connexin32 promoter just upstream of the transcription start site, the second is located in the 5 prime untranslated region of the mRNA.

NEUROLOGY 1996;47: 541-544




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