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Background: The MPZ Thr124Met mutation is characterised by a late onset, pupil lary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. Objective: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MP Z Thr124Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi. Results: Genotyping with DNA microsatellite markers linked to the M PZ gene on chromosome 1q22 q23 showed shared allelic characteristics between 12 .65 cM and revealed a common haplotype in all Tottori families. Aichi and Ibarag i families shared parts of the haplotype around the MPZ gene. However, there was no consistency with a Nara family. Conclusions: The high frequency of this pecu liar genotype in the Tottori CMT population is presumably due to a founder effec t, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.
Background: The MPZ Thr124Met mutation is characterised by a late onset, pupil lary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. Objective: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MP Z Thr 124 Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi. Results: Genotyping with DNA microsatellite markers linked to the M PZ gene on chromosome 1q22 q23 showed shared allelic characteristics between 12 .65 cM and revealed a Common, haplotype in all Tottori families. Aichi and Ibarag i families shared parts of the haplotype around the MPZ gene. However, there was no consistency with a Nara family. Conclusions: The high frequency of this pecu liar genotype in the Tottori CMT population is presumably due to a founder effec t, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.