{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:37:23Z","timestamp":1788910643882,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T00:00:00Z","timestamp":1548806400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Scientific and Technology Research Council of Turkey","award":["T\u00dcB\u0130TAK-SBAG"],"award-info":[{"award-number":["T\u00dcB\u0130TAK-SBAG"]}]},{"name":"Scientific and Technology Research Council of Turkey","award":["111S217"],"award-info":[{"award-number":["111S217"]}]},{"name":"Scientific and Technology Research Council of Turkey","award":["T\u00dcB\u0130TAK-B\u0130LGEM- UEKAE"],"award-info":[{"award-number":["T\u00dcB\u0130TAK-B\u0130LGEM- UEKAE"]}]},{"name":"Scientific and Technology Research Council of Turkey","award":["K030-T439"],"award-info":[{"award-number":["K030-T439"]}]},{"name":"Turkey Republic Ministry of Development","award":["TRMOD"],"award-info":[{"award-number":["TRMOD"]}]},{"name":"Turkey Republic Ministry of Development","award":["108S420"],"award-info":[{"award-number":["108S420"]}]},{"name":"Turkey Republic Ministry of Development","award":["11S217"],"award-info":[{"award-number":["11S217"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>MBOAT7<\/jats:italic> gene codes O\u2010acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7 families with <jats:italic>MBOAT7<\/jats:italic> gene defect, a recently defined novel phospholipid remodelling disease. To the best of our knowledge, our case series is the second report on patients with <jats:italic>MBOAT7<\/jats:italic> gene defect. The patients present with global developmental delay particularly in speech and language skills, intellectual disability, stereotypical behavior, ataxic gait, early onset epilepsy with well response to medical treatment, strabismus and similar facial features. Common neuroimaging findings of the patients were folium dysgenesis of the cerebellum with a particular appearance, mild\u2010to\u2010moderate cerebellar atrophy, T2 hyperintensity of bilateral globus pallidius and dentate nuclei, enlarged perivascular areas, and mild thinning of the corpus callosum. Genome\u2010wide genotyping and exome sequencing identified five different types of homozygous mutations in the <jats:italic>MBOAT7<\/jats:italic> gene in all seven families which are p.Arg87*, p.Leu227ProfsX65, p.Gln376Lys, p.Trp426*, and chr19:54.666.173\u201054.677.766\/11594\u2009bp del. We conclude that clinical and neuroimaging findings of <jats:italic>MBOAT7<\/jats:italic> gene defect may suggest the diagnosis and guide genetic tests.<\/jats:p>","DOI":"10.1002\/jimd.12016","type":"journal-article","created":{"date-parts":[[2019,1,31]],"date-time":"2019-01-31T04:20:22Z","timestamp":1548908422000},"page":"381-388","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Expanding the phenotype of phospholipid remodelling disease due to <i>MBOAT7<\/i> gene defect"],"prefix":"10.1002","volume":"42","author":[{"given":"Dilek","family":"Yaln\u0131zo\u01e7lu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Neurology Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. 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