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First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
Neurogenetics 19, 55–59 (2018)
Familial cerebral cavernous malformations (CCMs) predispose to seizures and hemorrhagic stroke. Molecular genetic analyses of CCM1, CCM2, and CCM3 result in a mutation detection rate of up to 98%. However, only whole genome sequencing (WGS) in combination with the Manta algorithm for analyses of structural variants revealed a heterozygous 24 kB inversion including exon 1 of CCM2 in a 12-year-old boy with familial CCMs. Its breakpoints were fine-mapped, and quantitative analysis on RNA confirmed reduced CCM2 expression. Our data expand the spectrum of CCM mutations and indicate that the existence of a fourth CCM disease gene is rather unlikely.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Cerebral Cavernous Malformation ; Genomic Inversion ; Whole Genome Sequencing ; Ccm2; Severe Hemophilia-a; Factor-viii Gene; Mutation; Ccm2; Phenotype; Variants
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Zeitschrift Neurogenetics
Quellenangaben Band: 19, Heft: 1, Seiten: 55–59 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort New York
Begutachtungsstatus peer-reviewed