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Article

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.

BMC medical genomics - 6 Sept 2021

Zhang Yu, Deng Linxia, Chen Xiaohong, Hu Yingjie, Chen Yaxian, Chen Kang, Zhou Jianhua

Abstract excerpt

BACKGROUND: Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy. This condition is caused by a mutation of OCRL gene (located at chromosome Xq26.1), which encodes an inositol polyphosphate 5-phosphatase. CASE PRESENTATION: We identified two novel OCRL mutations in two unrelated Chinese boys, each with a severe phenotype...

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Identifiers

PMID: 34488756
DOI: 10.1186/s12920-021-01069-9
PMCID: PMC8422650

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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