Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B

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Abstract

Charcot-Marie-Tooth disease type 1 (CMT1) or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most families the disease segregates with a 1.5 Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with point mutations in the PMP-22 gene. In some families linkage has been found with markers located on chromosome 1q21-q25 (CMT1B) and more recently mutations have been identified in the PO gene. We analysed an extended CMT1 pedigree (CMT-B) without the CMT1A duplication. Significant positive linkage with chromosome 1 indicated that this family is of the CMT1B subtype. Sequencing of the candidate gene P0 located in chromosome band 1q21-q23 showed a C to A point mutation at position 446 in exon 3 resulting in an Asp134Glu substitution. Since the PO mutation cosegregated with CMT1 disease we suggest that this mutation is the primary genetic cause of CMT1B in family CMT-B.

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Nelis, E., Timmerman, V., De Jonghe, P., Muylle, L., Martin, J. J., & Van Broeckhoven, C. (1994). Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. Journal of Medical Genetics, 31(10), 811–815. https://doi.org/10.1136/jmg.31.10.811

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