Back to Search Start Over

Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

Authors :
Alina, Khromykh
Benjamin D, Solomon
Dale L, Bodian
Eyby L, Leon
Ramaswamy K, Iyer
Robin L, Baker
David P, Ascher
Rajiv, Baveja
Joseph G, Vockley
John E, Niederhuber
Source :
Molecular syndromology. 6(3)
Publication Year :
2015

Abstract

D-Bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe disorder of peroxisomal fatty acid oxidation. Nonspecific clinical features may contribute to diagnostic challenges. We describe a newborn female with infantile-onset seizures and nonspecific mild dysmorphisms who underwent extensive genetic workup that resulted in the detection of a novel homozygous mutation (c.302+1_4delGTGA) in the HSD17B4 gene, consistent with a diagnosis of D-bifunctional protein deficiency. By comparing the standard clinical workup to diagnostic analysis performed through research-based whole-genome sequencing (WGS), which independently identified the causative mutation, we demonstrated the ability of genomic sequencing to serve as a timely and cost-effective diagnostic tool for the molecular diagnosis of apparent and occult newborn diseases. As genomic sequencing becomes more available and affordable, we anticipate that WGS and related omics technologies will eventually replace the traditional tiered approach to newborn diagnostic workup.

Subjects

Subjects :
Original Article

Details

ISSN :
16618769
Volume :
6
Issue :
3
Database :
OpenAIRE
Journal :
Molecular syndromology
Accession number :
edsair.pmid..........cf94e76b7d43999cdae4651c61c5a035