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

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 MB...

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Veröffentlicht in:American journal of human genetics Jg. 99; H. 4; S. 912
Hauptverfasser: 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
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States 06.10.2016
Schlagworte:
Acyltransferases - genetics
Acyltransferases - metabolism
Arachidonic Acid - metabolism
Autistic Disorder - complications
Autistic Disorder - enzymology
Autistic Disorder - genetics
Autistic Disorder - metabolism
Child
Child, Preschool
Consanguinity
Epilepsy - complications
Epilepsy - enzymology
Epilepsy - genetics
Epilepsy - metabolism
Female
Homozygote
Humans
Infant
Intellectual Disability - complications
Intellectual Disability - enzymology
Intellectual Disability - genetics
Intellectual Disability - metabolism
Lysophospholipids - metabolism
Male
Membrane Proteins - genetics
Membrane Proteins - metabolism
Mutation
Pedigree
Phosphatidylinositols - metabolism
LPIAT1
arachidonic acid
epilepsy
phosphatidylinositol
inflammation
MBOAT7
lipid
autism
intellectual disability
ISSN:1537-6605, 1537-6605
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Zusammenfassung: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.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:1537-6605
1537-6605
DOI:10.1016/j.ajhg.2016.07.019