Title | Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Johansen, A, Rosti, RO, Musaev, D, Sticca, E, Harripaul, R, Zaki, M, Çağlayan, AOkay, Azam, M, Sultan, T, Froukh, T, Reis, A, Popp, B, Ahmed, I, John, P, Ayub, M, Ben-Omran, T, Vincent, JB, Gleeson, JG, Jamra, RAbou |
Journal | Am J Hum Genet |
Volume | 99 |
Issue | 4 |
Pagination | 912-916 |
Date Published | 2016 Oct 06 |
ISSN | 1537-6605 |
Keywords | Acyltransferases, Arachidonic Acid, Autistic Disorder, Child, Child, Preschool, Consanguinity, Epilepsy, Female, Homozygote, Humans, Infant, Intellectual Disability, Lysophospholipids, Male, Membrane Proteins, Mutation, Pedigree, Phosphatidylinositols |
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. |
DOI | 10.1016/j.ajhg.2016.07.019 |
Alternate Journal | Am J Hum Genet |
PubMed ID | 27616480 |
PubMed Central ID | PMC5065650 |
Grant List | UM1 HG008900 / HG / NHGRI NIH HHS / United States U54 HG003067 / HG / NHGRI NIH HHS / United States R01 NS048453 / NS / NINDS NIH HHS / United States U54 HG006504 / HG / NHGRI NIH HHS / United States P01 HD070494 / HD / NICHD NIH HHS / United States R01 NS098004 / NS / NINDS NIH HHS / United States |