PuSH - Publication Server of Helmholtz Zentrum München: First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

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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)

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Open Access Green as soon as Postprint is submitted to ZB.

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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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