000164828 001__ 164828
000164828 005__ 20230915090557.0
000164828 0247_ $$2pmc$$apmc:PMC9262070
000164828 0247_ $$2doi$$a10.3174/ajnr.A7555
000164828 0247_ $$2ISSN$$a0195-6108
000164828 0247_ $$2ISSN$$a1936-959X
000164828 0247_ $$2altmetric$$aaltmetric:130476926
000164828 0247_ $$2pmid$$apmid:35772801
000164828 037__ $$aDZNE-2022-01272
000164828 082__ $$a610
000164828 1001_ $$00000-0001-5877-9086$$aAlves, C. A. P. F.$$b0
000164828 245__ $$aBrain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
000164828 260__ $$aOak Brook, Ill.$$bSoc.$$c2022
000164828 3367_ $$2DRIVER$$aarticle
000164828 3367_ $$2DataCite$$aOutput Types/Journal article
000164828 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1657539785_30475
000164828 3367_ $$2BibTeX$$aARTICLE
000164828 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000164828 3367_ $$00$$2EndNote$$aJournal Article
000164828 520__ $$aPathogenic somatic variants affecting the genes Histone 3 Family 3A and 3B (H3F3) are extensively linked to the process of oncogenesis, in particular related to central nervous system tumors in children. Recently, H3F3 germline missense variants were described as the cause of a novel pediatric neurodevelopmental disorder. We aimed to investigate patterns of brain MR imaging of individuals carrying H3F3 germline variants.Materials and methods: In this retrospective study, we included individuals with proved H3F3 causative genetic variants and available brain MR imaging scans. Clinical and demographic data were retrieved from available medical records. Molecular genetic testing results were classified using the American College of Medical Genetics criteria for variant curation. Brain MR imaging abnormalities were analyzed according to their location, signal intensity, and associated clinical symptoms. Numeric variables were described according to their distribution, with median and interquartile range.Results: Eighteen individuals (10 males, 56%) with H3F3 germline variants were included. Thirteen of 18 individuals (72%) presented with a small posterior fossa. Six individuals (33%) presented with reduced size and an internal rotational appearance of the heads of the caudate nuclei along with an enlarged and squared appearance of the frontal horns of the lateral ventricles. Five individuals (28%) presented with dysgenesis of the splenium of the corpus callosum. Cortical developmental abnormalities were noted in 8 individuals (44%), with dysgyria and hypoplastic temporal poles being the most frequent presentation.Conclusions: Imaging phenotypes in germline H3F3-affected individuals are related to brain features, including a small posterior fossa as well as dysgenesis of the corpus callosum, cortical developmental abnormalities, and deformity of lateral ventricles.
000164828 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000164828 588__ $$aDataset connected to CrossRef, Journals: pub.dzne.de
000164828 650_2 $$2MeSH$$aBrain: diagnostic imaging
000164828 650_2 $$2MeSH$$aBrain: pathology
000164828 650_2 $$2MeSH$$aBrain Neoplasms: diagnostic imaging
000164828 650_2 $$2MeSH$$aBrain Neoplasms: genetics
000164828 650_2 $$2MeSH$$aBrain Neoplasms: pathology
000164828 650_2 $$2MeSH$$aChild
000164828 650_2 $$2MeSH$$aGerm Cells: pathology
000164828 650_2 $$2MeSH$$aHistones: genetics
000164828 650_2 $$2MeSH$$aHumans
000164828 650_2 $$2MeSH$$aMale
000164828 650_2 $$2MeSH$$aMalformations of Cortical Development: pathology
000164828 650_2 $$2MeSH$$aNeurodevelopmental Disorders: pathology
000164828 650_2 $$2MeSH$$aRetrospective Studies
000164828 7001_ $$aSherbini, O.$$b1
000164828 7001_ $$aD’Arco, F.$$b2
000164828 7001_ $$00000-0003-0942-7943$$aSteel, D.$$b3
000164828 7001_ $$00000-0003-3529-5075$$aKurian, M. A.$$b4
000164828 7001_ $$aRadio, F. C.$$b5
000164828 7001_ $$00000-0002-3793-5788$$aFerrero, G. B.$$b6
000164828 7001_ $$00000-0001-5690-6504$$aCarli, D.$$b7
000164828 7001_ $$00000-0001-7736-9672$$aTartaglia, M.$$b8
000164828 7001_ $$00000-0002-5409-8387$$aBalci, T. B.$$b9
000164828 7001_ $$aPowell-Hamilton, N. N.$$b10
000164828 7001_ $$aSchrier Vergano, S. A.$$b11
000164828 7001_ $$aReutter, H.$$b12
000164828 7001_ $$00000-0002-7917-7129$$aHoefele, J.$$b13
000164828 7001_ $$aGünthner, R.$$b14
000164828 7001_ $$00000-0002-8439-657X$$aRoeder, E. R.$$b15
000164828 7001_ $$00000-0001-8000-0446$$aLittlejohn, R. O.$$b16
000164828 7001_ $$00000-0003-4496-244X$$aLessel, D.$$b17
000164828 7001_ $$00000-0002-9902-7697$$aLüttgen, S.$$b18
000164828 7001_ $$00000-0001-6316-6997$$aKentros, C.$$b19
000164828 7001_ $$00000-0002-4977-9719$$aAnyane-Yeboa, K.$$b20
000164828 7001_ $$00000-0002-6528-7570$$aCatarino, C. B.$$b21
000164828 7001_ $$00000-0001-8396-6764$$aMercimek-Andrews, S.$$b22
000164828 7001_ $$0P:(DE-2719)2812081$$aDenecke, Jannis$$b23$$udzne
000164828 7001_ $$00000-0002-8644-5507$$aLyons, M. J.$$b24
000164828 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b25$$udzne
000164828 7001_ $$00000-0001-5748-3507$$aBhoj, E. J.$$b26
000164828 7001_ $$00000-0001-8483-8940$$aBryant, L.$$b27
000164828 7001_ $$00000-0002-6290-6751$$aVanderver, A.$$b28
000164828 773__ $$0PERI:(DE-600)2025541-X$$a10.3174/ajnr.A7555$$gVol. 43, no. 7, p. 1048 - 1053$$n7$$p1048 - 1053$$tAmerican journal of neuroradiology$$v43$$x0195-6108$$y2022
000164828 909CO $$ooai:pub.dzne.de:164828$$pVDB
000164828 9101_ $$0I:(DE-HGF)0$$6P:(DE-2719)2812081$$aExternal Institute$$b23$$kExtern
000164828 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810704$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b25$$kDZNE
000164828 9131_ $$0G:(DE-HGF)POF4-353$$1G:(DE-HGF)POF4-350$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lNeurodegenerative Diseases$$vClinical and Health Care Research$$x0
000164828 9141_ $$y2022
000164828 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2021-02-04
000164828 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2021-02-04
000164828 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2021-02-04
000164828 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bAM J NEURORADIOL : 2021$$d2022-11-16
000164828 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-16
000164828 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-16
000164828 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-16
000164828 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-16
000164828 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2022-11-16
000164828 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2022-11-16
000164828 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2022-11-16
000164828 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2022-11-16
000164828 9201_ $$0I:(DE-2719)1111015$$kAG Höglinger 2$$lCoordinator of Clinical Parkinson Research$$x0
000164828 980__ $$ajournal
000164828 980__ $$aVDB
000164828 980__ $$aI:(DE-2719)1111015
000164828 980__ $$aUNRESTRICTED