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Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.

Human molecular genetics - 26 Apr 2021

Ramadesikan Swetha, Skiba Lisette, Lee Jennifer, Madhivanan Kayalvizhi, Sarkar Daipayan, De La Fuente Agustina, Hanna Claudia B, Terashi Genki, Hazbun Tony, Kihara Daisuke, Aguilar R Claudio

Abstract excerpt

Lowe Syndrome (LS) is a lethal genetic disorder caused by mutations in the OCRL1 gene which encodes the lipid 5' phosphatase Ocrl1. Patients exhibit a characteristic triad of symptoms including eye, brain and kidney abnormalities with renal failure as the most common cause of premature death. Over 200 OCRL1 mutations have been identified in LS, but their specific impact on cellular processes is unknown. Despite...

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Identifiers

PMID: 33517444
DOI: 10.1093/hmg/ddab025
PMCID: PMC8091038

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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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