Literature DB >> 27616480

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

Anide Johansen1, Rasim O Rosti2, Damir Musaev2, Evan Sticca3, Ricardo Harripaul4, Maha Zaki5, Ahmet Okay Çağlayan6, Matloob Azam7, Tipu Sultan8, Tawfiq Froukh9, André Reis10, Bernt Popp10, Iltaf Ahmed11, Peter John11, Muhammad Ayub12, Tawfeg Ben-Omran13, John B Vincent4, Joseph G Gleeson14, Rami Abou Jamra15.   

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.
Copyright © 2016. Published by Elsevier Inc.

Entities:  

Keywords:  LPIAT1; MBOAT7; arachidonic acid; autism; epilepsy; inflammation; intellectual disability; lipid; phosphatidylinositol

Mesh：

Substances：

Year:  2016        PMID： 27616480      PMCID： PMC5065650          DOI： 10.1016/j.ajhg.2016.07.019

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  32 in total

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Journal:  Res Dev Disabil       Date:  2011-01-13

2.  De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

Authors:  S Jansen; T Kleefstra; M H Willemsen; P de Vries; R Pfundt; J Y Hehir-Kwa; C Gilissen; J A Veltman; B B A de Vries; L E L M Vissers
Journal:  Clin Genet       Date:  2016-02-14       Impact factor: 4.438

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4.  Genome sequencing identifies major causes of severe intellectual disability.

Authors:  Christian Gilissen; Jayne Y Hehir-Kwa; Djie Tjwan Thung; Maartje van de Vorst; Bregje W M van Bon; Marjolein H Willemsen; Michael Kwint; Irene M Janssen; Alexander Hoischen; Annette Schenck; Richard Leach; Robert Klein; Rick Tearle; Tan Bo; Rolph Pfundt; Helger G Yntema; Bert B A de Vries; Tjitske Kleefstra; Han G Brunner; Lisenka E L M Vissers; Joris A Veltman
Journal:  Nature       Date:  2014-06-04       Impact factor: 49.962

5.  Modification of eicosanoid profile in human blood treated by dual COX/LOX inhibitors.

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6.  Lysophospholipid acyltransferases and eicosanoid biosynthesis in zebrafish myeloid cells.

Authors:  Simona Zarini; Joseph A Hankin; Robert C Murphy; Miguel A Gijón
Journal:  Prostaglandins Other Lipid Mediat       Date:  2014-08-28       Impact factor: 3.072

7.  Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

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Review 9.  Autism genetics: searching for specificity and convergence.

Authors:  Jamee M Berg; Daniel H Geschwind
Journal:  Genome Biol       Date:  2012-07-31       Impact factor: 13.583

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962
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  20 in total

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2.  Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.

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Review 3.  Understanding the diversity of membrane lipid composition.

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4.  Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

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Journal:  Hum Genet       Date:  2018-08-22       Impact factor: 4.132

5.  The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase.

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6.  Phospholipase Cγ2 regulates endocannabinoid and eicosanoid networks in innate immune cells.

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7.  Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability.

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8.  The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.

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Review 9.  MBOAT7 down-regulation by genetic and environmental factors predisposes to MAFLD.

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10.  Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

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