Femoral bowing is the hallmark diagnostic characteristic of KD. Novel mutations have been discovered in the RMRP gene of a single patient with KD, specifically, a mutation (insertion) of T at 194-195 paternal allele and a 63C-->T point mutation of the maternal allele.
Femoral bowing is the defining characteristic of KD. A novel genetic variation has been found in the RMRP gene of one patient with KD, characterized by an insertion of T at 194-195 on the paternal chromosome and a specific point mutation (63C-->T) on the maternal chromosome.