A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany

• Published in: Brain research. Molecular brain research. Vol. 88; no. 1; pp. 183 - 185
• Main Authors: Bergmann, Carsten, Schröder, J.Michael, Rudnik-Schöneborn, Sabine, Zerres, Klaus, Senderek, Jan
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 31.03.2001; Elsevier
• Subjects: Biological and medical sciences; Charcot-Marie-Tooth Disease - genetics; Connexins - genetics; cx32 gene; Cx32 mutation; Cx32 polymorphism; Cx32 promoter P2; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Gap Junction beta-1 Protein; Germany; Hereditary motor and sensory neuropathy; Humans; Male; Medical sciences; Neurology; Point Mutation; Polymorphism, Single Nucleotide; Promoter Regions, Genetic - genetics; X Chromosome; X-linked Charcot-Marie-Tooth neuropathy; Europe; Germany; X-linked Charcot-Marie-Tooth neuropathy; Hereditary motor and sensory neuropathy; Cx32 polymorphism; Cx32 mutation; Cx32 promoter P2; Human; Connexin; Neuromuscular diseases; Nervous system diseases; Charcot Marie Tooth disease; Transcription promoter; Central nervous system disease; Point mutation; Degenerative disease; X-Chromosome; Spinal cord disease; Genetic disease
• ISSN: 0169-328X; 1872-6941
• DOI: 10.1016/S0169-328X(01)00040-7

The sensorimotor neuropathy Charcot-Marie-Tooth disease (CMT) is the most common hereditary disorder of the peripheral nervous system. The X-linked dominant form of CMT (CMTX) is associated with mutations in the connexin32 gene (Cx32). The majority of CMTX cases harbour mutations in the coding region while a few cases have been reported to result from mutations in the promoter region. We found a G-713A transition of the nerve specific Cx32 promoter P2 in the Caucasian German population. The allele frequency reached 50%, both in CMT patients and in healthy control individuals. In contrast, in an earlier contribution to this journal [Brain Res. Mol. Brain Res.78 (2000) 146], the same base transition was reported to cause CMTX in a Taiwanese family. These divergent results are important for genetic counselling and require careful consideration of ethnic backgrounds and of diagnostic and experimental pitfalls.