Figure 2.

Compound heterozygous variants in HSD17B4. A) Schematic of HSD17B4 (NP_000405) with multiple sequence alignment. SCP2, sterol carrier protein 2; #, cleavage site. B) Pedigree denoting genotypes. C) Normalized depth of coverage at each exon (“x”); lines represent smoothed data from proband (red) and controls (black). Below, reads showing deletion-spanning mate pairs. D) Sanger trace of c.587C > T. E) DNA gel indicating genotypes at deletion site, schematic of primers, and Sanger trace across deletion in proband. Abbreviations: wt, wildtype; nd, no data; del, deletion; norm, normalized.