Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China
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Summary
This summary is machine-generated.D-bifunctional protein deficiency (D-BPD) is a rare genetic disorder. This study details a Chinese neonate with D-BPD caused by novel mutations in the HSD17B4 gene, highlighting expanded genetic causes.
Area Of Science
- Genetics
- Biochemistry
- Neonatal Medicine
Background
- D-bifunctional protein deficiency (D-BPD) is a rare, fatal autosomal recessive peroxisomal disorder.
- It is caused by mutations in the HSD17B4 gene and presents with neonatal hypotonia, seizures, and dysmorphisms.
Purpose Of The Study
- To describe a case of D-BPD in a Chinese neonate.
- To identify novel pathogenic variants in the HSD17B4 gene associated with D-BPD.
Main Methods
- Whole-genome sequencing (WGS) was used to identify mutations.
- Parental Sanger sequencing confirmed the identified variants.
- Biochemical testing for very-long-chain fatty acids (VLCFAs) was performed.
Main Results
- A female neonate presented with severe neonatal symptoms including asphyxia, hypotonia, and refractory seizures.
- WGS identified novel compound heterozygous mutations (c.1145G>A/c.1193C>G) in the HSD17B4 gene.
- Elevated VLCFA levels (C26:0, C24:0/C22:0) and severe psychomotor retardation were observed.
Conclusions
- This case expands the known mutational spectrum of D-BPD.
- Novel biallelic pathogenic variants in HSD17B4 were identified in a Chinese neonate with D-BPD.
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