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

dc.contributor.authorJohansen, Anide
dc.contributor.authorRosti, Rasim O.
dc.contributor.authorMusaev, Damir
dc.contributor.authorSticca, Evan
dc.contributor.authorHarripaul, Ricardo
dc.contributor.authorZaki, Maha
dc.contributor.authorAbou Jamra, Rami
dc.date.accessioned2019-08-13T12:10:23Z
dc.date.accessioned2019-08-13T15:56:55Z
dc.date.available2019-08-13T12:10:23Z
dc.date.available2019-08-13T15:56:55Z
dc.date.issued2016
dc.identifier.issn0002-9297
dc.identifier.issn1537-6605
dc.identifier.urihttps://dx.doi.org/10.1016/j.ajhg.2016.07.019
dc.identifier.urihttp://hdl.handle.net/11446/2412
dc.descriptionWOS: 000385333700011en_US
dc.descriptionPubMed ID: 27616480en_US
dc.description.abstractThe 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.en_US
dc.description.sponsorshipHoward Hughes Medical Institute; National Institute of Neurological Disorders and Stroke [R01NS098004, R01NS048453]; Eunice Kennedy Shriver National Institute of Child Health and Human Development [P01HD070494]; Qatar National Research Fund [NPRP6-1463]; Simons Foundation Autism Research Initiative [175303, 275275]; Deutsche Forschungsgemeinschaft (DFG) [AB393/2-2, AB393/4-1]; Canadian Institutes of Health Research [MOP-102758]; Pakistani Higher Education Commissionen_US
dc.description.sponsorshipWe are grateful to the affected individuals and their families for their participation in the study. This study was supported by the Howard Hughes Medical Institute, National Institute of Neurological Disorders and Stroke (R01NS098004 and R01NS048453), Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD070494), Qatar National Research Fund (NPRP6-1463), and Simons Foundation Autism Research Initiative (175303 and 275275). We thank the Broad Institute (U54HG003067 to E. Lander and HG00 8900 to D. MacArthur) and the Yale Center for Mendelian Disorders (U54HG006504 to R. Lifton, M. Gunel, M. Gerstein, and S. Mane) for sequencing support and analysis. This study was partially supported by grants from the Deutsche Forschungsgemeinschaft (DFG) to R.A.J. (AB393/2-2 and AB393/4-1), a grant from the Canadian Institutes of Health Research to J.B.V. (MOP-102758), and an award from the Pakistani Higher Education Commission to I.A.en_US
dc.language.isoengen_US
dc.publisherCELL PRESSen_US
dc.identifier.doi10.1016/j.ajhg.2016.07.019en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleMutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Featuresen_US
dc.typearticleen_US
dc.relation.journalAMERICAN JOURNAL OF HUMAN GENETICSen_US
dc.departmentDBÜen_US
dc.identifier.issue4en_US
dc.identifier.volume99en_US
dc.identifier.startpage912en_US
dc.identifier.endpage916en_US
dc.contributor.authorID0000-0002-6301-6363en_US
dc.contributor.authorID0000-0002-3679-1081en_US
dc.contributor.authorID0000-0002-1542-1399en_US
dc.contributor.authorID0000-0001-7840-0002en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.department-temp[Johansen, Anide -- Rosti, Rasim O. -- Musaev, Damir -- Gleeson, Joseph G.] Univ Calif San Diego, Dept Neurosci, Lab Pediat Brain Dis, Rady Childrens Inst Genom Med, La Jolla, CA 92093 USA -- [Johansen, Anide] Oslo Univ Hosp, Dept Med Genet, N-0316 Oslo, Norway -- [Johansen, Anide] Univ Oslo, N-0316 Oslo, Norway -- [Sticca, Evan -- Gleeson, Joseph G.] Rockefeller Univ, Lab Pediat Brain Dis, New York, NY 10065 USA -- [Harripaul, Ricardo -- Vincent, John B.] Campbell Family Mental Hlth Res Inst, Ctr Addict & Mental Hlth, Toronto, ON M5T 1R8, Canada -- [Zaki, Maha] Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt -- [Caglayan, Ahmet Okay] Istanbul Bilim Univ, Sch Med, Dept Med Genet, TR-34394 Istanbul, Turkey -- [Azam, Matloob] Wah Med Coll, Dept Pediat & Child Neurol, Wah Cantt, Pakistan -- [Sultan, Tipu] Children Hosp Lahore, Inst Child Hlth, Dept Pediat Neurol, Lahore 54000, Pakistan -- [Froukh, Tawfiq] Philadelphia Univ, Dept Biotechnol & Genet Engn, Amman, Jordan -- [Reis, Andre -- Popp, Bernt -- Abou Jamra, Rami] Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany -- [Ahmed, Iltaf -- John, Peter] Natl Univ Sci & Technol, Atta Ur Rehman Sch Appl Biosci, Islamabad, Pakistan -- [Ayub, Muhammad] Queens Univ, Dept Psychiat, Kingston, ON K7L 3N6, Canada -- [Ben-Omran, Tawfeg] Weill Cornell Med Coll, Clin & Metab Genet Dept, Doha, Qatar -- [Ben-Omran, Tawfeg] Hamad Med Corp, Dept Pediat, Doha, Qatar -- [Gleeson, Joseph G.] Howard Hughes Med Inst, Chevy Chase, MD 20815 USA -- [Abou Jamra, Rami] Univ Med Ctr Leipzig, Inst Human Genet, D-04103 Leipzig, Germanyen_US


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