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

Abstract excerpt

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...

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• Carrier Proteins
• Hemangioma, Cavernous, Central Nervous System
• Intellectual Disability
• Micrognathism
• Pedigree