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Article

Comprehensive Structural MRI Phenotyping in Oligophrenin 1-Related Disorder Reveals Characteristic Brain Malformations.

AJNR. American journal of neuroradiology - 1 Jul 2026

Biswas Asthik, Whitehead Matthew T, Haldipur Parthiv, Blaser Susan, Gowda Vykuntaraju K, De Vita Enrico, Josifova Dragana, Jewell Rosalyn, Menzies Lara, Mankad Kshitij, Sudhakar Sniya

Abstract excerpt

The Oligophrenin 1 (OPHN1) gene, located on Xq12, encodes a Rho GTPase-activating protein that regulates the Rho/Ras signalling pathways essential for cell migration, morphogenesis, dendritogenesis, and synaptic plasticity. Pathogenic variants in OPHN1 have been shown to be associated with structural brain malformations. Early neuroimaging reports described nonspecific findings such as an enlarged cisterna magna,...

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Identifiers

PMID: 42386379
DOI: 10.3174/ajnr.A9184
PMCID: PMC13322375

Genes

OPHN1

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

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