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Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1997; Springer Science+Business Media; Volume: 99; Issue: 4 Linguagem: Inglês

10.1007/s004390050396

1432-1203

Emiel A. M. Janssen, Stephan Kemp, Gerard W. Hensels, Ongie G. Sie, Christine de Die‐Smulders, Jessica E. Hoogendijk, Marianne de Visser, Pieter A. Bolhuis,

Heat shock proteins research

Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease. The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy with liability to pressure palsies) patients based on genetic linkage to Xq13.1, absence of the 17p12 duplication and deletion, and absence of point mutations in PMP22 and P0. We found five new mutations at nucleotides 105 (C-T), 316 (C-G), 321 (C-T), 328 (T-C), and 657 (G-C), and three mutations at nucleotide 126 (C-T), 249 (G-A), and 477 (G-A) previously described in other unrelated families. The nucleotide changes resulted in seven amino-acid substitutions and one premature stop codon.