Figure 2.

Ideogram of chromosome 17 is shown. Localization, indicated by red rectangles and base pair positions (referring to hg19) defining the homozygous regions of family FLKK1 and PK31 are given. The exon/intron structure of METTL23 is shown: blue blocks represent coding regions and gray blocks represent untranslated regions, introns are shown as dark lines. Black vertical lines indicate the position of the mutations for LFKK1 and PK31. Electropherograms show the homozygous familial mutations in METTL23 for LFKK1 and PK31 compared with WT sequences. Haplotypes and simplified pedigrees of LFKK1 and PK31 are shown. The disease haplotype is indicated by black bars. All alleles are recoded. Mutation status (mut) of all tested individuals is indicated by 1 for WT and 2 for mutated.