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Article

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

European journal of human genetics : EJHG - 1 May 2014

Santos-Rebouças Cíntia Barros, Belet Stefanie, Guedes de Almeida Luciana, Ribeiro Márcia Gonçalves, Medina-Acosta Enrique, Bahia Paulo Roberto Valle, Alves da Silva Antônio Francisco, Lima dos Santos Flávia, Borges de Lacerda Glenda Corrêa, Pimentel Márcia Mattos Gonçalves, Froyen Guy

Abstract excerpt

Oligophrenin-1 (OPHN1) is one of at least seven genes located on chromosome X that take part in Rho GTPase-dependent signaling pathways involved in X-linked intellectual disability (XLID). Mutations in OPHN1 were primarily described as an exclusive cause of non-syndromic XLID, but the re-evaluation of the affected individuals using brain imaging displayed fronto-temporal atrophy and cerebellar hypoplasia as...

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Identifiers

PMID: 24105372
DOI: 10.1038/ejhg.2013.216
PMCID: PMC3992576

Genes

OPHN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.PMID 24105372Read ↗

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