Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.

BMC medical genetics - 6 Mar 2014

Lieber Daniel S, Hershman Steven G, Slate Nancy G, Calvo Sarah E, Sims Katherine B, Schmahmann Jeremy D, Mootha Vamsi K

Abstract excerpt

BACKGROUND: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. Compound heterozygous mutations in HSD17B4 have also been reported in two sisters diagnosed with Perrault syndrome (MIM # 233400), who presented in adolescence with ovarian dysgenesis, hearing loss,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Copy Number Variations
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ataxia

Share to Azoospermia

Share to Gene Dosage

Share to Hearing Loss, Sensorineural

Share to Mitochondrial Diseases

Share to Molecular Diagnostic Techniques

Source

Open in PubMed Open full text

Identifiers

PMID: 24602372
DOI: 10.1186/1471-2350-15-30
PMCID: PMC4015298

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.PMID 24602372Read ↗

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.Semantic proximity Read ↗

Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.Semantic proximity Read ↗

Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.Semantic proximity Read ↗

Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Semantic proximity Read ↗

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.Semantic proximity Read ↗

Expanding the genotypic spectrum of Perrault syndrome.Semantic proximity Read ↗

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methodsSemantic proximity Read ↗

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).Semantic proximity Read ↗

D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate.Semantic proximity Read ↗

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.Semantic proximity Read ↗

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.Semantic proximity Read ↗

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.