TUB and obesity due to melanocortin 4 receptor deficiency: We screened TUB using Sanger sequencing in 96 additional probands with childhood-onset autosomal-recessive RP, where previous genetic investigations had not identified the causative gene, and in 55 patients with severe obesity and a variety of ocular phenotypes from the Genetics of Obesity Study (GOOS); no additional potentially pathogenic variants were found.