ArticleBMC medical genetics2014
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 45 citations in OpenAlex.
- Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Article
- Peroxisomal DBP deficiency causes male infertility through disruption of lipid homeostasis in Drosophila.Cellular and molecular life sciences : CMLS · 2026Article
- A Homozygous Missense Variant inMolecular syndromology · 2024Article
- Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.Clinical genetics · 2021Article
- Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.Molecular genetics and metabolism reports · 2020Article
- Two Novel Pathogenic Variants ConfirmGenes · 2020Article
- Acetylation-mediated degradation of HSD17B4 regulates the progression of prostate cancer.Aging · 2020Article
- Biallelic mutation ofNeurology. Genetics · 2020Article
- Broadening the phenotype of the TWNK gene associated Perrault syndrome.BMC medical genetics · 2019Article
- Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.Journal of translational medicine · 2019Article
- When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases.The Journal of biological chemistry · 2019Review
- Microglia lacking a peroxisomal β-oxidation enzyme chronically alter their inflammatory profile without evoking neuronal and behavioral deficits.Journal of neuroinflammation · 2019Article
- Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency.Brain pathology (Zurich, Switzerland) · 2018Article
- A Novel Mechanism to Drive Castration-Resistant Prostate Cancer.Trends in endocrinology and metabolism: TEM · 2018Article
- A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.BMC medical genetics · 2017Article
- Unresolved questions regarding human hereditary deafness.Oral diseases · 2017Review
- Heterozygous mutations inNeurology. Genetics · 2016Article
- The Diagnosis and Natural History of Multiple System Atrophy, Cerebellar Type.Cerebellum (London, England) · 2016Article
- A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.Journal of clinical research in pediatric endocrinology · 2016Article
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundD-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, and ataxia. CASE PRESENTATION: An adult male presented with cerebellar ataxia, peripheral neuropathy, hearing loss, and azoospermia. The clinical presentation, in combination with biochemical findings in serum, urine, and muscle biopsy, suggested a mitochondrial disorder. Commercial genetic testing of 18 ataxia and mitochondrial disease genes was negative. Targeted exome sequencing followed by analysis of single nucleotide variants and small insertions/deletions failed to reveal a genetic basis of disease. Application of a computational algorithm to infer copy number variants (CNVs) from exome data revealed a heterozygous 12 kb deletion of exons 10-13 of HSD17B4 that was compounded with a rare missense variant (p.A196V) at a highly conserved residue. Retrospective review of patient records revealed mildly elevated ratios of pristanic:phytanic acid and arachidonic:docosahexaenoic acid, consistent with dysfunctional peroxisomal fatty acid oxidation.
conclusionOur case expands the phenotypic spectrum of HSD17B4-deficiency, representing the first male case reported with infertility. Furthermore, it points to crosstalk between mitochondria and peroxisomes in HSD17B4-deficiency and Perrault syndrome.
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