FSCN1 – Autism

A limited association between FSCN1 and autism is suggested by a single case report (PMID:25893121) in which a 29‑month‑old male presented with key neurodevelopmental features including brachycephaly, protruding ears, reduced eye contact, cryptorchidism, and delayed speech. In this patient, a 1.3 Mb interstitial duplication at 7p22.1, encompassing FSCN1 among 13 other genes, was detected by whole genome microarray. Although the duplication spans multiple genes, the inclusion of FSCN1 raises the possibility that altered dosage of this actin‐bundling protein may contribute to the autism phenotype. The paucity of additional probands or segregation data, however, limits the overall weight of this finding.

Genetic evidence remains constrained to this isolated report with no detailed analyses of FSCN1‐specific coding changes or familial segregation of pathogenic variants. Functional studies of FSCN1 in other disease contexts (e.g. in cancer or neuronal differentiation) have been conducted, yet these do not directly support a mechanistic link to autism. Thus, while preliminary clinical findings provide an initial signal, further genetic and functional investigation is required before establishing robust diagnostic or therapeutic utility.

References

• Case reports in genetics • 2015 • Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism PMID:25893121

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