Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.

ABSTRACT: Cerebral cavernous malformations (CCM) are vascular malformations consisting of collections of enlarged capillaries occurring in the brain or spinal cord. These vascular malformations can occur sporadically or susceptibility to develop these can be inherited as an autosomal dominant trait due to mutation in one of three genes. Over a decade ago, we described a 77.6 Kb germline deletion spanning exons 2-10 in the CCM2 gene found in multiple affected individuals from seemingly unrelated families. Segregation analysis using linked, microsatellite markers indicated that this deletion may have arisen at least twice independently. In the ensuing decades, many more CCM patients have been identified with this deletion. In this present study we examined 27 reportedly unrelated affected individuals

SUBMITTER: Gallione CJ 

PROVIDER: S-EPMC9940658 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature