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Article

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

American journal of medical genetics. Part A - 1 Apr 2025

Feresin Agnese, Spedicati Beatrice, Zampieri Stefania, Morgan Anna, Magnolato Andrea, Tesser Alessandra, Tommasini Alberto, Bonati Maria Teresa, Girotto Giorgia, Faletra Flavio

Abstract excerpt

Alteration in the ubiquitin-proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz-Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder, craniofacial dysmorphisms, with or without other congenital anomalies, and...

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Identifiers

PMID: 39641441
DOI: 10.1002/ajmg.a.63953

Genes

PSMD12

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

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