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Article

A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jan 2011

Zhao Yao, Xie Liqian, Li Peiliang, Song Jianping, Qu Tianming, Fan Weiwei, Chen Hongyan, Chen Dan, Lu Daru, Zhou Liangfu, Mao Ying

Abstract excerpt

Familial cerebral cavernous malformations (CCMs) are characterized by an autosomal dominant transmission with incomplete penetrance. We have previously reported a 1292delAT mutation in the CCM1 gene in a Chinese family with CCM. Here we report a novel deletion of CCM1 that correlates strongly with CCM formation in another family. Ten affected family members were observed among the 25 participants, and multiple...

Topics

Brain
Female
Genotype
Hemangioma, Cavernous, Central Nervous System
Humans
KRIT1 Protein
Magnetic Resonance Imaging
Male
Microtubule-Associated Proteins
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Proto-Oncogene Proteins

Sequence Deletion

Source

Identifiers

PMID: 20884211
DOI: 10.1016/j.jocn.2010.04.051

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-20884211-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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