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

EAM Janssen*, S Kemp, GW Hensels, OG Sie, CEM deDieSmulders, JE Hoogendijk, M deVisser, PA Bolhuis

*Corresponding author for this work

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    Abstract

    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.

    Original languageEnglish
    Pages (from-to)501-505
    Number of pages5
    JournalHUMAN GENETICS
    Volume99
    Issue number4
    Publication statusPublished - Apr-1997

    Keywords

    • GAP JUNCTION PROTEIN
    • POINT MUTATIONS
    • LOCALIZATION
    • NEUROPATHY
    • LINKAGE
    • CLONING
    • GJB1

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