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Article

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

European journal of human genetics : EJHG - 1 Jan 2024

Uctepe Eyyup, Vona Barbara, Esen Fatma Nisa, Sonmez F Mujgan, Smol Thomas, Tümer Sait, Mancılar Hanifenur, Geylan Durgun Dilan Ece, Boute Odile, Moghbeli Meysam, Ghayoor Karimiani Ehsan, Hashemi Narges, Bakhshoodeh Behnoosh, Kim Hyung Goo, Maroofian Reza, Yesilyurt Ahmet

Abstract excerpt

Lissencephaly (LIS) is a malformation of cortical development due to deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. Thirty-one LIS-associated genes have been previously described. Recently, biallelic pathogenic variants in CRADD and PIDD1, have associated with LIS impacting the previously established role of the PIDDosome in activating caspase-2. In this report, we describe...

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Identifiers

PMID: 37880421
DOI: 10.1038/s41431-023-01461-2
PMCID: PMC10772072

Genes

CASP2
CRADD
PIDD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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