case_images: PMC8342883_01
case_images: The patient with severe hypotonia and facial dysmorphism.
case_images: fped-09-679597-g0001.jpg
case_images: PMC8342883_01_fped-09-679597-g0001.jpg
case_images: F1
case_images: Convulsions and hypotonia (Figure 1) were found on the first day of life.
case_images: Heterozygous mutations of HSD17B4 in the family. (A) Pedigree of family with D-bifunctional protein (DBP) deficiency. X, variant; N, normal. (B) Sanger sequencing validation of HSD17B4 variants identified by exome sequencing. For the mutated gene c.972+1G>T, the sequencing validation is reversed, and the complementary chain of G>T is C>A. Genomic DNA was amplified for sequencing with primers flanking intron 12 and exon 10. Arrow indicates heterozygous mutations. Red X, c.972+1G>T at chr5:119496647-119496647. Blue X, c.727T>A (p.W243R) at chr5:119492112-119492112.
case_images: fped-09-679597-g0002.jpg
case_images: PMC8342883_01_fped-09-679597-g0002.jpg
case_images: F2
case_images: They are c.972+1G>T heterozygous mutation and c.727T>A heterozygous mutation (Figure 2). The results suggested that his father was a carrier of the c.972+1G>T mutation and his mother was a carrier of the c.727T>A (p.W243R) mutation (Figure 2).