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Article

FSCN1 as a Candidate Gene for Syndromic Intellectual Disability? Evidence From a Recurrent Variant in an Iranian Cohort.

Clinical genetics - 1 Feb 2026

Najmabadi Hossein, Akhtarkhavari Tara, Shokouhian Ebrahim, Arzhangi Sanaz, Kahrizi Kimia

Abstract excerpt

Intellectual disability (ID) is a genetically heterogeneous disorder, and many causative genes remain unidentified. FSCN1 encodes an actin-bundling protein essential for neuronal development, but its role in human neurodevelopmental disorders has not been clinically established. By revisiting data from a previously studied Iranian ID cohort, we identified two unrelated families carrying the same rare pathogenic...

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Identifiers

PMID: 40874942
DOI: 10.1111/cge.70051

Genes

FSCN1

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

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