Whereas PHAII in our family is explained by p.(Arg528Cys) mutation in the KLHL3 gene, as previously reported [3,4], the sensory neuropathy is likely to be a new phenotype associated with KLHL3, considering the extensive genetic screening, our segregation analysis and that the variant has been reported to be pathogenic. This evidence concerns the gene KLHL3 and Sensory neuropathy.