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Article

Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology.

European journal of human genetics : EJHG - 1 Feb 2026

Altay Melek Firat, Gregor Anne, Braun Dominique, Rieubland Claudine, Gautschi Matthias, Perret Hoigné Eveline, Schiller Rike, Keren Boris, Afenjar Alejandra, Martinez-Agosto Julian A, Rosenfeld Jill A, Zweier Christiane

Abstract excerpt

Serine/arginine repetitive matrix protein 1 (SRRM1) is a key component of spliceosomes and plays various roles in messenger RNA processing. To date, its function in the nervous system has not been elucidated, and germline variants in SRRM1 have not yet been implicated in disease. Through international collaboration, we have identified three individuals harbouring heterozygous truncating variants in SRRM1,...

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Identifiers

PMID: 41145827
DOI: 10.1038/s41431-025-01966-y
PMCID: PMC12858978

Genes

SRRM1

Provenance

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

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