ArticleJournal of medical genetics2017
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 44 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- [Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].Problemy endokrinologii · 2026Article
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Novel Pathogenic Variants inHuman mutation · 2024Article
- A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023Review
- The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to NonsynonymousNeurology. Genetics · 2022Article
- Genomic legacy of migration in endangered caribou.PLoS genetics · 2022Article
- New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.Archives of medical science : AMS · 2022Article
- A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.BMC neurology · 2021Article
- Defective myelination in an RNA polymerase III mutant leukodystrophic mouse.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- RNA Polymerase III Subunit Mutations in Genetic Diseases.Frontiers in molecular biosciences · 2021Review
- 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.American journal of medical genetics. Part A · 2020Article
- A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.BMC neurology · 2020Article
- Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.Neurology. Genetics · 2020Article
- Characterization of the human GnRH neuron developmental transcriptome using aDisease models & mechanisms · 2020Article
- Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.Journal of the Endocrine Society · 2020Article
- Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.Reproductive biology and endocrinology : RB&E · 2020Article
- POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.Frontiers in cellular neuroscience · 2020Article
- GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings inFrontiers in endocrinology · 2020Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundA constellation of neurodegenerative disorders exists (Gordon Holmes syndrome, 4H leucodystrophy, Boucher-Neuhauser syndrome) in which patients suffer from both neurological disease (typically manifested by ataxia) and reproductive failure (idiopathic hypogonadotropic hypogonadism (IHH)). POLR3B, which encodes the second largest subunit of RNA polymerase III (pol III), and POLR3A, which forms the pol III catalytic centre, are associated with 4H leucodystrophy.
methodsWhole exome sequencing was performed on a large cohort of subjects with IHH (n=565). Detailed neuroendocrine studies were performed in some individuals within this cohort.
resultsFour individuals (two of them siblings) were identified with two rare nucleotide variants in POLR3B. On initial evaluation, all subjects were free of neurological disease. One patient underwent treatment with exogenous pulsatile gonadotropin-releasing hormone for 8 weeks which failed to result in normalisation of his sex steroid milieu due to pituitary resistance.
conclusionsThese findings suggest that the spectrum of phenotypes resulting from POLR3B mutations is wider than previously believed and that POLR3B can be associated exclusively with disorders characterised by abnormal gonadotropin secretion.
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