ERCC1 and COFS syndrome: The patient described by Jaspers et al. presented a new cause for COFS that is caused by a heterozygous bi-allelic mutation of ERCC1, in which in one allele Q158 was converted to a stop codon resulting in a fully dysfunctional ERCC1, while the other allele carried a C-to-G transversion causing a F231L mutation [147,149].