Figure 1.

Pedigrees of three families with novel non-synonymous variants of C15ORF41. Black filled symbols indicate individuals with CDA-I. Chromatograms from a control individual (upper) and the proband (lower) show sequence changes identified, together with the amino acids encoded by the change and by adjacent codons. Positions of nucleotide changes are shown above the chromatogram and are given according to numbering of the base within the open reading frame in the C15ORF41 cDNA (ENST00000566621). The lower two panels also show electron micrographs of intermediate erythroblasts from each proband clearly showing the spongy heterochromatin (arrowed) indicative of CDA-I. Probands are indicated by arrows. Below each symbol the status of that individual for the change identified in the proband is shown.