ArticleAmerican journal of human genetics2010
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 1 of them a synthesis that pooled it.
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Who cites it
128 citing papers in PubMed, 1 synthesis or guideline pooled it, 255 citations in OpenAlex.
- Pooled it
- Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Article
- Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.Journal of applied genetics · 2026Review
- Peroxisomes in the mouse ovary and their alterations during follicular development and oocyte maturation.Cell and tissue research · 2025Article
- Disrupting mitochondrial β-oxidation by depletion of HADHA impairs primary ciliogenesis.Scientific reports · 2025Article
- Primary human ovarian interstitial cells contribute to murine follicle growth through follicle-interstitial paracrine crosstalk.Research square · 2025Article
- HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA.Nature communications · 2025Article
- HSD17B4 mutation: an unusual cause of cerebellar ataxia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Case Report: D-bifunctional protein deficiency caused by novel compound heterozygoteFrontiers in genetics · 2025Article
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- Discovering predisposing genes for hereditary breast cancer using deep learning.Briefings in bioinformatics · 2024Article
- Spatial Proteomics Reveals Alcohol-Induced Damages to the Crypts and Villi of the Mouse Small Intestine.Journal of proteome research · 2024Article
- D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.International journal of molecular sciences · 2024Review
- Perrault syndrome: The Way Forward After Genetic Counselling?BMJ case reports · 2024Article
- A Homozygous Missense Variant inMolecular syndromology · 2024Article
- Theoretical Analysis and Expression Profiling of 17β-Hydroxysteroid Dehydrogenase Genes in Gonadal Development and Steroidogenesis of Leopard Coral Grouper (International journal of molecular sciences · 2024Article
- The peroxisome: an update on mysteries 3.0.Histochemistry and cell biology · 2024Review
- Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.Frontiers in endocrinology · 2024Review
68 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
Abstract
Perrault syndrome is a recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both males and females, and in some patients, neurological manifestations. No genes for Perrault syndrome have heretofore been identified. A small family of mixed European ancestry includes two sisters with well-characterized Perrault syndrome. Whole-exome sequencing of genomic DNA from one of these sisters revealed exactly one gene with two rare functional variants: HSD17B4, which encodes 17beta-hydroxysteroid dehydrogenase type 4 (HSD17B4), also known as D-bifunctional protein (DBP). HSD17B4/DBP is a multifunctional peroxisomal enzyme involved in fatty acid beta-oxidation and steroid metabolism. Both sisters are compound heterozygotes for HSD17B4 c.650A>G (p.Y217C) (maternal allele) and HSB17B4 c.1704T>A (p.Y568X) (paternal allele). The missense mutation is predicted by structural analysis to destabilize the HSD17B4 dehydrogenase domain. The nonsense mutation leads to very low levels of HSD17B4 transcript. Expression of mutant HSD17B4 protein in a compound heterozygote was severely reduced. Mutations in HSD17B4 are known to cause DBP deficiency, an autosomal-recessive disorder of peroxisomal fatty acid beta-oxidation that is generally fatal within the first two years of life. No females with DBP deficiency surviving past puberty have been reported, and ovarian dysgenesis has not previously been associated with this illness. Six other families with Perrault syndrome have wild-type sequences of HSD17B4. These results indicate that Perrault syndrome and DBP deficiency overlap clinically; that Perrault syndrome is genetically heterogeneous; that DBP deficiency may be underdiagnosed; and that whole-exome sequencing can reveal critical genes in small, nonconsanguineous families.
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