Pathogenic variants of the genes RGS12, GRPEL1, CLIC6 and WFS1 are suggested to be associated with an increased risk of nodular goitre, typically developing during the first decade of life – no other manifestations have been associated with the genes expect WFS1 (Wolfram syndrome), though the literature is very sparse (26, 27). Here, GRPEL1 is linked to Wolfram syndrome.