Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

ABSTRACT:

Background

Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1,CCM2, and CCM3 genes remains unknown.

Methods

We here present a series of six trios with de novo mutations that have been analyzed by amplicon deep sequencing to differentiate between constitutional and postzygotic mutations.

Results

In one case, allelic ratios clearly indicated mosaicism for a CCM3 splice site mutation found in blood and buccal mucosa of a 2-year-old boy with multiple CCMs. The remaining five de novo mutations proved to be constitutional.

SUBMITTER: Rath M 

PROVIDER: S-EPMC5241208 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature