excluded all putative variants that were also present in 50 of the 1000 Genomes control samples included in the variant calling process. In applying these criteria, we identified candidate genes within each family (4 in Family A, 65 in Family B, and 3 in Family F). The reason why a larger number of candidate genes were identified in Family B was that exome data were available for only 3 members of this family, as compared with 6 members each for Families A and F. One gene, MKRN3 (ENSG00000179455, gene identification number 7681), was identified in 2 families. No single gene was identified in all 3 families. Families A and B had novel frameshift mutation variants in MKRN3 (p.Arg213Glyfs*73 and p.Tyr391fs*, respectively) (Fig. 1 and 2).
