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Spiegler, S.* ; Rath, M.* ; Hoffjan, S.* ; Dammann, P.* ; Sure, U.* ; Pagenstecher, A.* ; Strom, T.M. ; Felbor, U.*

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

Neurogenetics 19, 55–59 (2018)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords 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
Journal Neurogenetics
Quellenangaben Volume: 19, Issue: 1, Pages: 55–59 Article Number: , Supplement: ,
Publisher Springer
Publishing Place New York
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)