In line with previous work on the prevalence of Charcot-Marie-Tooth (CMT) disease on the African continent, Malian and South African researchers report the observation of a very rare form of CMT:
- for the first time, the same variant of the CADM3 gene (Tyr172Cys) has been identified both in a Malian family and in a patient of Caucasian origin,
- the CADM3 gene encodes a protein involved in cell adhesion processes,
- the clinical and electrical picture corresponded to a severe form of axonal CMT, albeit with considerable familial variability,
- additional functional studies carried out in collaboration with an American team confirmed the pathogenic nature of this variant of the CADM3 gene, which was inherited in an autosomal dominant fashion.
This description adds to that in the literature, where only three other similar cases of CMT linked to CADM3 had been reported.
