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Article

Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature.

Ophthalmic genetics - 1 Oct 2025

Manav Yiğit Zehra, Dikbaş Osman Semih, Erkan Erol, Vural Gözde Şahin, Bozkurt Gökay

Abstract excerpt

INTRODUCTION: Variations in the SCAPER gene are associated with Intellectual Developmental Disorder and Retinitis Pigmentosa (IDDRP), characterized by visual and neurological symptoms. Despite limited data, SCAPER plays a critical role in cell cycle regulation and ciliary function, which may explain its diverse phenotypic effects. This study aims to report a homozygous NM_020843.4: c.2605 A>T; p.(Lys869*)...

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Identifiers

PMID: 40159802
DOI: 10.1080/13816810.2025.2485222

Genes

SCAPER

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

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