Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1

DNA-based mutation analysis on the connexin 32 gene was performed in 49 fam ilies with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified i n five of the 49 families, and four of the five mutations were hitherto und escribed: Val37Met, Glu57His, Arg142Glu, Val177Ala. X-linked CMT sometimes lacks evidence for X-linked transmission and cannot be differentiated from CMT type 2, especially in females with mildly decreased nerve conduction ve locity, Therefore, molecular analysis is useful for molecular pathology of their disease. Am. J. Med. Genet. 80:352-355, 1998. (C) 1998 Wiley-Liss, In c.