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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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Johansen A,Rosti RO,Musaev D,Sticca E,Harripaul R,Zaki M,Çağlayan AO,Azam M,Sultan T,Froukh T,Reis A,Popp B,Ahmed I,John P,Ayub M,Ben-Omran T,Vincent JB,Gleeson JG,Abou Jamra R

doi

10.1016/j.ajhg.2016.07.019

subject

Has Abstract

pub_date

2016-10-06 00:00:00

pages

912-916

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(16)30293-2

journal_volume

99

pub_type

杂志文章

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