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Article

Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.

Journal of human genetics - 1 Oct 2020

Nakano Eiji, Yoshida Amine, Miyama Yudai, Yabuuchi Tomoo, Kajiho Yuko, Kanda Shoichiro, Miura Kenichiro, Oka Akira, Harita Yutaka

Abstract excerpt

Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism underlying variability in the phenotype is unclear. We identified an intronic mutation,...

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Identifiers

PMID: 32427950
DOI: 10.1038/s10038-020-0773-3

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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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