Article
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
American journal of human genetics - 6 Oct 2016
Johansen Anide, Rosti Rasim O, Musaev Damir, Sticca Evan, Harripaul Ricardo, Zaki Maha, Çağlayan Ahmet Okay, Azam Matloob, Sultan Tipu, Froukh Tawfiq, Reis André, Popp Bernt, Ahmed Iltaf, John Peter, Ayub Muhammad, Ben-Omran Tawfeg, Vincent John B, Gleeson Joseph G, Abou Jamra Rami
Abstract excerpt
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...
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