Furthermore, whereas mutations in the ERRC4 gene have not been reported to be associated with human male infertility, they were associated with Xeroderma Pigmentosum, Fanconi Anemia Complementation Group F (FANCF; OMIM: 603467), and Group Q (FANCQ; OMIM: 615272),34,35,36 all of which are disorders that have not been associated with our patient brothers. Moreover, the variant associated with these disorders was mapped to ERCC4 GeneBank: NM_005236 exon 6, which is absent in the two testis-specific ERRC4 transcript isoforms listed in the GTEx dataset (Figure S2). This evidence concerns the gene FANCF and xeroderma pigmentosum.