TULP1 and obesity due to melanocortin 4 receptor deficiency: In summary, we describe a new ciliopathy characterized by retinal dystrophy and early-onset obesity due to a homozygous variant in TUB. Although further studies will be needed to fully elucidate the molecular functions of TUB, it is striking that the TUB variant reported here and all TULP1 mutations described to date, disrupt the C-terminal domain found in all TUB family members.