Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

Molecular biology reports - 16 Apr 2026

Amr Khalda, Ahmed Hoda A, Shalabi Taghreed, Abdel-Hady S, El-Bassyouni Hala T

Abstract excerpt

BACKGROUND: Lowe syndrome is an extremely rare X-linked genetic condition caused by disruptions in phosphatidylinositol metabolism, primarily impacting the eyes, brain, and kidneys. The condition is driven by over 200 identified mutations in the OCRL1 gene, which codes for an inositol polyphosphate 5-phosphatas. METHODS: This report details an Egyptian family seeking prenatal diagnosis after having a child with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Egypt
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oculocerebrorenal Syndrome

Share to Pedigree

Share to Phosphoric Monoester Hydrolases

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 41989494
DOI: 10.1007/s11033-026-11701-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.PMID 41989494Read ↗

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read ↗

Novel OCRL mutations in Chinese children with Lowe syndrome.Semantic proximity Read ↗

Structure and function of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".Semantic proximity Read ↗

Genomic sequencing of Lowe syndrome trios reveal a mechanism for the heterogeneity of neurodevelopmental phenotypesSemantic proximity Read ↗

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

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a familySemantic proximity Read ↗

Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndromeSemantic proximity Read ↗

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.Semantic proximity Read ↗

Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.Semantic proximity Read ↗

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.