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Article

A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome.

European journal of human genetics : EJHG - 1 Dec 2023

Malik Madiha Amin, Saqib Muhammad Arif Nadeem, Mientjes Edwin, Acharya Anushree, Alam Muhammad Rizwan, Wallaard Ilse, Schrauwen Isabelle, Bamshad Michael J, Santos-Cortez Regie Lyn P, Elgersma Ype, Leal Suzanne M, Ansar Muhammad

Abstract excerpt

Intellectual disability (ID) and retinal dystrophy (RD) are the frequently found features of multiple syndromes involving additional systemic manifestations. Here, we studied a family with four members presenting severe ID and retinitis pigmentosa (RP). Using genome wide genotyping and exome sequencing, we identified a nonsense variant c.747 C > A (p.Tyr249Ter) in exon 7 of AGPAT3 which co-segregates with the...

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Identifiers

PMID: 37821758
DOI: 10.1038/s41431-023-01475-w
PMCID: PMC10689475

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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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