This situation was reported for other human disease genes involving transcription factors such as SALL1 causing Towns–Brocks syndrome (TBS) or Central-Nervous-System-TBS (MIM 107480) [32] and TBX6 causing TBX6-associated congenital scoliosis or a spectrum of vertebral anomalies and Congenital Anomalies of Kidney and Urinary Tract (CAKUT) (MIM 122600) [33,34]. This evidence concerns the gene SALL1 and Townes-Brocks syndrome.