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Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.

Medicine - 26 Aug 2022

Bai Hengzhou, Li Dingming, Zheng Yi, Jiang XiaoHui

Abstract excerpt

INTRODUCTION: 4H leukodystrophy, one of POLR3-related leukodystrophy, is a rare hereditary brain white matter disease caused by the pathogenic biallelic variations in POLR3A, POLR3B, or POLR1C. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism is mainly presented in patients with 4H leukodystrophy. PATIENT CONCERNS: Here, we reported the brother and the sister with new compound heterozygous...

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Identifiers

PMID: 36042647
DOI: 10.1097/MD.0000000000030350
PMCID: PMC9410618

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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