Herein, we describe three generations of a family diagnosed with LDS caused by a new mutation in the FOXC2 gene. This mutation is a frameshift due to a deletion of two nucleotides (CC) in C repeats between C586 and C591. This mutation leads to protein truncation as a result of an earlier insertion of a stop codon.
To the best of our knowledge, this is the first description of this mutation in the literature and could be coupled with an atypical lymphoscintigram.