Schimke immune-osseous dysplasia1 (SIOD) is an autosomal recessive disorder caused by mutations in the SMARCAL1 gene encoding an ATP-driven annealing helicase that stabilizes stalled replication forks and facilitates DNA repair during replication2. The syndrome is characterized by spondyloepiphyseal dysplasia, steroid-resistant nephropathy and cellular immune deficiency.
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