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Article

Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.

Genomics - 1 Nov 2020

Heidari Erfan, Caddeo Andrea, Zarabadi Kiana, Masoudi Maryam, Tavasoli Ali Reza, Romeo Stefano, Garshasbi Masoud

Abstract excerpt

The membrane bound O-acyltransferase domain-containing 7 (MBOAT7) gene codes for an enzyme involved in regulating arachidonic acid incorporation in lysophosphatidylinositol. Patients with homozygous nonsense mutations in MBOAT7 have intellectual disability (ID) accompanied with seizure and autism. Accumulating evidences obtained from human genetic studies have shown that MBOAT7 is also involved in fatty liver...

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PMID: 32645526
DOI: 10.1016/j.ygeno.2020.07.008

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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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