SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

doi:10.1016/j.ajhg.2010.10.005

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Article

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

American journal of human genetics - 12 Nov 2010

Birk Efrat, Har-Zahav Adi, Manzini Chiara M, Pasmanik-Chor Metsada, Kornreich Liora, Walsh Christopher A, Noben-Trauth Konrad, Albin Adi, Simon Amos J, Colleaux Laurence, Morad Yair, Rainshtein Limor, Tischfield David J, Wang Peter, Magal Nurit, Maya Idit, Shoshani Noa, Rechavi Gideon, Gothelf Doron, Maydan Gal, Shohat Mordechai, Basel-Vanagaite Lina

Abstract excerpt

Intellectual disability (ID) affects 1%-3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on the identification of a truncating mutation in the SOBP that is...

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PMID: 21035105
DOI: 10.1016/j.ajhg.2010.10.005
PMCID: PMC2978971

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SOBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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