title: A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.
abstract: 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.
authors: Institut für Humangenetik, Universitätsklinikum der RWTH Aachen, Pauwelsstrasse 30, D-52074 Aachen, Germany. cbergmann@post.klinikum.rwth-aachen.de
authors: C
authors: C
authors: Bergmann
authors: J M
authors: JM
authors: Schröder
authors: S
authors: S
authors: Rudnik-Schöneborn
authors: K
authors: K
authors: Zerres
authors: J
authors: J
authors: Senderek
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005260:Female; D005858:Germany; D006801:Humans; D008297:Male; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein