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Article

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.

Human molecular genetics - 25 Aug 2022

Hu Yalan, Lauffer Peter, Stewart Michelle, Codner Gemma, Mayerl Steffen, Heuer Heike, Ng Lily, Forrest Douglas, van Trotsenburg Paul, Jongejan Aldo, Fliers Eric, Hennekam Raoul, Boelen Anita

Abstract excerpt

Pierpont syndrome is a rare disorder characterized mainly by global developmental delay, unusual facial features, altered fat distribution in the limbs and hearing loss. A specific mutation (p.Tyr446Cys) in TBL1XR1, encoding a WD40 repeat-containing protein, which is a component of the SMRT/NCoR (silencing mediator retinoid and thyroid hormone receptors/nuclear receptor corepressors), has been reported as the...

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Identifiers

PMID: 35416977
DOI: 10.1093/hmg/ddac086
PMCID: PMC9433735

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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