In family RP-2069, which comprised 2 affected siblings with RP, neurodevelopment delay, obesity, and renal alterations (Table 1 and Fig. 2), the index case was found to have two novel heterozygous likely pathogenic variants in IFT27 (Supplementary Table S3), a splicing variant in exon 6 (c.350-2A>G), and a missense variant p.(Tyr35Cys), which affects a highly conserved residue located in a nucleotide-binding domain with GTPase activity28. This evidence concerns the gene IFT27 and obesity due to melanocortin 4 receptor deficiency.