Mutation identification. (A) Exome sequencing. Graphical representation of sequence tags from exome sequencing (HX proband, exon 13). All 26 full-length reads have an A instead of a G, leading to a missense mutation, Gly to Arg at amino acid 614, which also disrupts the normal splicing at the 3′ acceptor splice site of the exon, ag:G to ag:A. (B) Sanger sequencing confirmation of HK1 gene mutations (proband). The corresponding partial exon 13 sequence from the proband reveals only homozygous “A” at the beginning of the exon, denoted by the small black arrow. (C) Sanger sequencing confirmation of HK1 gene mutations (parents). The corresponding partial exon 13 sequence from the mother reveals both “A” and “G” alleles, denoted by the large gray arrow, indicating the presence of wild-type and mutant alleles. Similar findings were observed in the father (not shown).