Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

doi:10.1016/j.ajhg.2025.05.013

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Article

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

American journal of human genetics - 3 Jul 2025

Ray Das Sankalita, Sullivan Rosie, Ruegg Mischa S G, Horsfield Julia, Doran Jordan, Poke Gemma, de Vries Nathalie, Duerinckx Sarah, Lederer Damien, Haniffa Muzhirah, Keng Wee-Teik, Ch'ng Gaik-Siew, Parry David A, Jackson Andrew P, Sakamoto Masamune, Matsumoto Naomichi, Miyake Noriko, Nabatame Shin, Taniguchi Hidetoshi, Wakeling Emma, Õunap Katrin, Ilves Pilvi, Mirzaa Ghayda, Timms Andrew, Pao Emily, Aldinger Kimberly A, Dobyns William, Bohring Axel, Behre Beate, Calame Daniel G, Lupski James R, Pascual Juan M, Abramowicz Marc, Gimenez Gregory, Bicknell Louise S

Abstract excerpt

Splicing is a complex process that is required to create the transcriptomic diversity needed for specialized functions in higher eukaryotes. The spliceosome contains more than 100 proteins and RNA molecules, which coordinate this dynamic process. Despite the ubiquity of splicing, pathogenic variants in spliceosomal components often cause a tissue-specific phenotype, hinting at further complexities that are not...

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Identifiers

PMID: 40857589
DOI: 10.1016/j.ajhg.2025.05.013
PMCID: PMC12256911

Genes

CRNKL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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