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

Maulik, 2011, Prevalence of intellectual disability: a meta-analysis of population-based studies, Res. Dev. Disabil., 32, 419, 10.1016/j.ridd.2010.12.018 Vissers, 2016, Genetic studies in intellectual disability and related disorders, Nat. Rev. Genet., 17, 9, 10.1038/nrg3999 2013 Gilissen, 2014, Genome sequencing identifies major causes of severe intellectual disability, Nature, 511, 344, 10.1038/nature13394 Hamdan, 2014, De novo mutations in moderate or severe intellectual disability, PLoS Genet., 10, e1004772, 10.1371/journal.pgen.1004772 Jansen, 2016, De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy resistant epilepsy in females: expanding the phenotypic spectrum, Clin. Genet., 10.1111/cge.12729 Musante, 2014, Genetics of recessive cognitive disorders, Trends Genet., 30, 32, 10.1016/j.tig.2013.09.008 Najmabadi, 2011, Deep sequencing reveals 50 novel genes for recessive cognitive disorders, Nature, 478, 57, 10.1038/nature10423 Kaufman, 2010, The genetic basis of non-syndromic intellectual disability: a review, J. Neurodev. Disord., 2, 182, 10.1007/s11689-010-9055-2 Deciphering Developmental Disorders, 2015, Large-scale discovery of novel genetic causes of developmental disorders, Nature, 519, 223, 10.1038/nature14135 Wright, 2015, Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data, Lancet, 385, 1305, 10.1016/S0140-6736(14)61705-0 Grozeva, 2015, Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability, Hum. Mutat., 36, 1197, 10.1002/humu.22901 McGrother, 2006, Epilepsy in adults with intellectual disabilities: prevalence, associations and service implications, Seizure, 15, 376, 10.1016/j.seizure.2006.04.002 Mefford, 2012, Genomics, intellectual disability, and autism, N. Engl. J. Med., 366, 733, 10.1056/NEJMra1114194 Allen, 2013, De novo mutations in epileptic encephalopathies, Nature, 501, 217, 10.1038/nature12439 Ronemus, 2014, The role of de novo mutations in the genetics of autism spectrum disorders, Nat. Rev. Genet., 15, 133, 10.1038/nrg3585 Gaugler, 2014, Most genetic risk for autism resides with common variation, Nat. Genet., 46, 881, 10.1038/ng.3039 Chen, 2015, The emerging picture of autism spectrum disorder: genetics and pathology, Annu. Rev. Pathol., 10, 111, 10.1146/annurev-pathol-012414-040405 Berg, 2012, Autism genetics: searching for specificity and convergence, Genome Biol., 13, 247, 10.1186/gb-2012-13-7-247 Novarino, 2012, Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy, Science, 338, 394, 10.1126/science.1224631 Gijón, 2008, Lysophospholipid acyltransferases and arachidonate recycling in human neutrophils, J. Biol. Chem., 283, 30235, 10.1074/jbc.M806194200 Lee, 2008, Caenorhabditis elegans mboa-7, a member of the MBOAT family, is required for selective incorporation of polyunsaturated fatty acids into phosphatidylinositol, Mol. Biol. Cell, 19, 1174, 10.1091/mbc.E07-09-0893 Dauwerse, 2007, A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome, Eur. J. Hum. Genet., 15, 743, 10.1038/sj.ejhg.5201833 Lands, 1958, Metabolism of glycerolipides; a comparison of lecithin and triglyceride synthesis, J. Biol. Chem., 231, 883, 10.1016/S0021-9258(18)70453-5 Zarini, 2014, Lysophospholipid acyltransferases and eicosanoid biosynthesis in zebrafish myeloid cells, Prostaglandins Other Lipid Mediat., 113-115, 52, 10.1016/j.prostaglandins.2014.08.003 Pérez-Chacón, 2009, Control of free arachidonic acid levels by phospholipases A2 and lysophospholipid acyltransferases, Biochim. Biophys. Acta, 1791, 1103, 10.1016/j.bbalip.2009.08.007 Pommery, 2005, Modification of eicosanoid profile in human blood treated by dual COX/LOX inhibitors, Prostaglandins Leukot. Essent. Fatty Acids, 73, 411, 10.1016/j.plefa.2005.08.009 Anderson, 2008, Morphoregulation by acetylcholinesterase in fibroblasts and astrocytes, J. Cell. Physiol., 215, 82, 10.1002/jcp.21288 Voineagu, 2011, Transcriptomic analysis of autistic brain reveals convergent molecular pathology, Nature, 474, 380, 10.1038/nature10110 Young, 2011, Aberrant NF-kappaB expression in autism spectrum condition: a mechanism for neuroinflammation, Front. Psychiatry, 2, 27, 10.3389/fpsyt.2011.00027 Young, 2016, From molecules to neural morphology: understanding neuroinflammation in autism spectrum condition, Mol. Autism, 7, 9, 10.1186/s13229-016-0068-x Mancina, 2016, The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent, Gastroenterology, 150, 1219, 10.1053/j.gastro.2016.01.032 Lee, 2012, LPIAT1 regulates arachidonic acid content in phosphatidylinositol and is required for cortical lamination in mice, Mol. Biol. Cell, 23, 4689, 10.1091/mbc.E12-09-0673