NLRP5 and obesity due to melanocortin 4 receptor deficiency: In family 2, NM_153447.4:c.2353C>T: (Gln785X; rs200446614, unknown minor-allele frequency) was found heterozygously in both affected siblings (proband 1 with BWS–MLID and proband 2 with a clinically non-specific autism and obesity–MLID) and their mother; the variant truncates NLRP5 in the first of 10 leucine-rich repeats (LRR).