ArticleAmerican journal of medical genetics. Part A2020
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- [Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].Problemy endokrinologii · 2026Article
- The First Case of 4H Syndrome with Type 1 Diabetes MellitusJournal of clinical research in pediatric endocrinology · 2025Article
- Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.American journal of medical genetics. Part A · 2022Article
- Defective myelination in an RNA polymerase III mutant leukodystrophic mouse.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.Italian journal of pediatrics · 2021Article
- RNA Polymerase III Subunit Mutations in Genetic Diseases.Frontiers in molecular biosciences · 2021Review
- Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.Annals of clinical and translational neurology · 2020Article
- 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.American journal of medical genetics. Part A · 2020Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
4H leukodystrophy, also known as Pol III-related leukodystrophy, is a rare autosomal recessive neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. It is caused by biallelic mutations in POLR3A, POL3RB, or POLR1C. So far, only two patients have been described with homozygosity for the common c.1568T>A (p.Val523Glu) POLR3B mutation, both of them showing a remarkably mild clinical course. Here, we report another patient with homozygosity for the same mutation, but with a more severe phenotype including ataxia, developmental delay, and intellectual disability. This information is of importance for clinicians to provide comprehensive counseling to patients with 4H leukodystrophy and their families.
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