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Article

Genetic Screening of Pediatric Cavernous Malformations.

Journal of molecular neuroscience : MN - 1 Oct 2016

Merello Elisa, Pavanello Marco, Consales Alessandro, Mascelli Samantha, Raso Alessandro, Accogli Andrea, Cama Armando, Valeria Capra, De Marco Patrizia

Abstract excerpt

Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions. In this study, we performed genetic screening of a cohort of 31 patients, mainly pediatric. We...

Topics

Adolescent
Apoptosis Regulatory Proteins
Carrier Proteins
Child
Child, Preschool
Codon, Terminator
Female
Genetic Testing
Hemangioma, Cavernous, Central Nervous System
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Infant, Newborn

KRIT1 Protein

Male

Membrane Proteins

Microtubule-Associated Proteins

Mutation

Penetrance

Source

Identifiers

PMID: 27561926
DOI: 10.1007/s12031-016-0806-8

Genes

CCM2
PDCD10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-27561926-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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