Sanger sequencing and segregation. (A) Pedigree of family with DBP deficiency. X= variant; N= normal. (B) Sanger sequencing validation of HSD17B4 variants identified by exome sequencing. Genomic DNA was amplified for sequencing with primers flanking exon 2 and 18 (see text for primer sequences). Asterisks indicate heterozygous mutations. Red X = c.101C>T (p. Ala34Val) at chr5:118792052. Blue X = c.1547T>C (p. Ile516Thr) at chr5:118860954.