Therefore, the identification of this novel VCAN splice mutation at position −6 supports the idea that the mutations occurring at deeper intronic positions than the canonical dinucleotides of introns 7 and 8 of VCAN may be of clinical relevance, as exemplified for the Chinese family with Wagner syndrome reported by Mukhopdhyay et al., for which the causal variant has not yet been identified [10]. Here, VCAN is linked to Wagner disease.