To further investigate our founder allele hypothesis [4] that homozygosity for the c.2089G>C (p.Gly697Arg) variant in COL27A1 is the molecular culprit for the clinically characterized Steel syndrome, we obtained samples from six of the originally reported and later on further clinically characterized patients with the defining syndrome STLS [1, 2] and their available family members. This evidence concerns the gene COL27A1 and Steel syndrome.