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Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2024

Du Rong, Zhou Chengcheng, Chen Shehong, Li Tong, Lin Yunting, Xu Aijing, Huang Yonglan, Mei Huifen, Huang Xiaoli, Tan Dongdong, Zheng Ruidan, Liang Cuili, Cai Yanna, Shao Yongxian, Zhang Wen, Liu Li, Zeng Chunhua

Abstract excerpt

BACKGROUND: Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children diagnosed with Lowe syndrome in southern China, and performs functional analysis of the novel variants. METHODS: Whole-exome sequencing was conducted on...

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Source

Identifiers

PMID: 38589698
DOI: 10.1007/s00467-024-06356-y

Genes

OCRL

Provenance

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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