Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R (2016)


Publication Type: Journal article

Publication year: 2016

Journal

Book Volume: 99

Pages Range: 912-916

Journal Issue: 4

DOI: 10.1016/j.ajhg.2016.07.019

Abstract

The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1). Subjects presented with ID frequently accompanied by epilepsy and autistic features. LPIAT1 is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol. This study suggests a role for AA-containing phosphatidylinositols in the development of ID accompanied by epilepsy and autistic features.

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APA:

Johansen, A., Rosti, R.O., Musaev, D., Sticca, E., Harripaul, R., Zaki, M.,... Abou Jamra, R. (2016). Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. American Journal of Human Genetics, 99(4), 912-916. https://doi.org/10.1016/j.ajhg.2016.07.019

MLA:

Johansen, Anide, et al. "Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features." American Journal of Human Genetics 99.4 (2016): 912-916.

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