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Article

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.

European journal of human genetics : EJHG - 1 Aug 2021

Zaki Maha S, Accogli Andrea, Mirzaa Ghayda, Rahman Fatima, Mohammed Hiba, Porras-Hurtado Gloria Liliana, Efthymiou Stephanie, Maqbool Shazia, Shukla Anju, Vincent John B, Hussain Abrar, Mir Asif, Beetz Christian, Leubauer Anika, Houlden Henry, Gleeson Joseph G, Maroofian Reza

Abstract excerpt

The PIDDosome is a multiprotein complex, composed by the p53-induced death domain protein 1 (PIDD1), the bipartite linker protein CRADD (also known as RAIDD) and the proform of caspase-2 that induces apoptosis in response to DNA damage. In the recent years, biallelic pathogenic variants in CRADD have been associated with a neurodevelopmental disorder (MRT34; MIM 614499) characterized by pachygyria with a...

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Identifiers

PMID: 34163010
DOI: 10.1038/s41431-021-00910-0
PMCID: PMC8385073

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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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