Skip to main content
. 2018 Apr 19;3(8):e99922. doi: 10.1172/jci.insight.99922

Figure 2. Rare variants in DHTKD1 in EoE.

Figure 2

Pedigree of index family (family 443; affected individuals are noted by shaded symbols) and chromatograms from Sanger sequencing validating heterozygosity for c.2500 cytosine (C) > thymine (T), p.arginine (Arg) 834* in all 4 affected individuals from family 443 (A). Chromatograms from Sanger sequencing validating heterozygosity for c.1897-1 guanine (G) > adenine (A) mutation in a separate patient with eosinophilic esophagitis (EoE) (II.1) and his unaffected mother (I.1) in family 808 (B). Schematic of the DHTKD1 gene locus. The DHTKD1 variants noted above the gene locus schematic are those identified by whole-exome sequencing (WES) in this study, whereas those identified in other studies (with references in brackets) are indicated below the schematic (C).