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

Journal article


Publication Details

Author(s): 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
Journal: American Journal of Human Genetics
Publication year: 2016
Volume: 99
Journal issue: 4
Pages range: 912-916
ISSN: 0002-9297


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.



FAU Authors / FAU Editors

Popp, Bernt Dr. med.
Humangenetisches Institut


External institutions with authors

Centre for Addiction and Mental Health (CAMH)
Children Hospital Lahore
Cornell University
Istanbul Bilim University / İstanbul Bilim Üniversitesi
National Research Centre (NRC) / المركز القومي للبحوث
National University of Sciences and Technology (NUST) / قومی جامع علم اور صنعت و حرفت‎
Philadelphia University
Queen's University
Rockefeller University
University of California, San Diego
Wah Medical College


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.

BibTeX: 

Last updated on 2019-16-01 at 06:02