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Article

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.

European journal of human genetics : EJHG - 1 Nov 2024

Whiting Kae R, Haer-Wigman Lonneke, Florijn Ralph J, van Beek Ronald, Oud Machteld M, Plomp Astrid S, Boon Camiel J F, Kroes Hester Y, Roepman Ronald

Abstract excerpt

INPP5E encodes inositol polyphosphate-5-phosphatase E, an enzyme involved in regulating the phosphatidylinositol (PIP) makeup of the primary cilium membrane. Pathogenic variants in INPP5E hence cause a variety of ciliopathies: genetic disorders caused by dysfunctional cilia. While the majority of these disorders are syndromic, such as the neuronal ciliopathy Joubert syndrome, in some cases patients will present...

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Source

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Identifiers

PMID: 38806661
DOI: 10.1038/s41431-024-01627-6
PMCID: PMC11576733

Genes

INPP5E
PIP

Provenance

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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