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


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Johansen A., Rosti R. O., Musaev D., Sticca E., Harripaul R., Zaki M., ...More

AMERICAN JOURNAL OF HUMAN GENETICS, vol.99, no.4, pp.912-916, 2016 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 99 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.1016/j.ajhg.2016.07.019
  • Journal Name: AMERICAN JOURNAL OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.912-916
  • Dokuz Eylül University Affiliated: No

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.