PMC8342883_01
The patient with severe hypotonia and facial dysmorphism.
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F1
Convulsions and hypotonia (Figure 1) were found on the first day of life.
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.
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F2
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).