The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

YAyşe Candayan, Gulshan Yunisova, Arman Çakar, Hacer Durmuş, A. Nazlı Başak, Yeşim Parman, Esra Battaloğlu. Neurogenetics (2019). doi:10.1007/s10048-019-00594-1

To the best of our knowledge, this family represents the first FXN missense mutation in homozygosity and challenges the notion that missense mutations have not been reported yet due to their embryonic lethality. Furthermore, this finding poses an interesting genetic overlap between autosomal recessive CMT and FRDA that we believe may have important implications on understanding the pathogenesis of these neurological disorders.