期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 99, 期 4, 页码 912-916出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2016.07.019
关键词
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资金
- Howard Hughes Medical Institute
- National Institute of Neurological Disorders and Stroke [R01NS098004, R01NS048453]
- Eunice Kennedy Shriver National Institute of Child Health and Human Development [P01HD070494]
- Qatar National Research Fund [NPRP6-1463]
- Simons Foundation Autism Research Initiative [175303, 275275]
- Deutsche Forschungsgemeinschaft (DFG) [AB393/2-2, AB393/4-1]
- Canadian Institutes of Health Research [MOP-102758]
- Pakistani Higher Education Commission
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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