Figure 7
From: Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype
Genomic structure of the exons encoding the open reading frame of DACH2 and identified mutations. DACH2 is composed of twelve exons that encode untranslated regions (UTR) (orange) and protein coding sequence (blue) (upper panel). Sanger sequence of codons 356-358 in exon 6 of DACH2 indicated the same mutation was present in two brothers and their mother (middle panel). S357C missense mutation was at a highly conserved position in DACH2 shown by comparison to the corresponding sequence of six vertebrates (lower panel). Rattus = Rattus norvegicus; Cricetulus = Cricetulus griseus; Pan = Pan troglodytes; Canis = Canis lupus familiaris; Bos = Bos Taurus.