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

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.

SUBMITTER: Johansen A 

PROVIDER: S-EPMC5065650 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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

Johansen Anide A   Rosti Rasim O RO   Musaev Damir D   Sticca Evan E   Harripaul Ricardo R   Zaki Maha M   Çağlayan Ahmet Okay AO   Azam Matloob M   Sultan Tipu T   Froukh Tawfiq T   Reis André A   Reis André A   Popp Bernt B   Ahmed Iltaf I   John Peter P   Ayub Muhammad M   Ben-Omran Tawfeg T   Vincent John B JB   Gleeson Joseph G JG   Abou Jamra Rami R  

American journal of human genetics 20160908 4

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 e  ...[more]

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