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.
Authors with CRIS profile
Involved external institutions
National Research Centre (NRC) / المركز القومي للبحوث
Egypt (EG)
Centre for Addiction and Mental Health (CAMH)
Canada (CA)
University of California, San Diego
United States (USA) (US)
National University of Sciences and Technology (NUST) / قومی جامع علم اور صنعت و حرفت
Pakistan (PK)
Cornell University
United States (USA) (US)
Queen's University
United Kingdom (GB)
Philadelphia University
Jordan (JO)
Children Hospital Lahore
Pakistan (PK)
Wah Medical College
Pakistan (PK)
Istanbul Bilim University / İstanbul Bilim Üniversitesi
Turkey (TR)
Rockefeller University
United States (USA) (US)
Egypt (EG)
Centre for Addiction and Mental Health (CAMH)
Canada (CA)
University of California, San Diego
United States (USA) (US)
National University of Sciences and Technology (NUST) / قومی جامع علم اور صنعت و حرفت
Pakistan (PK)
Cornell University
United States (USA) (US)
Queen's University
United Kingdom (GB)
Philadelphia University
Jordan (JO)
Children Hospital Lahore
Pakistan (PK)
Wah Medical College
Pakistan (PK)
Istanbul Bilim University / İstanbul Bilim Üniversitesi
Turkey (TR)
Rockefeller University
United States (USA) (US)
How to cite
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://dx.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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