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Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family

  • Qin Du
  • Ziyan Shi
  • Hongxi Chen
  • Ying Zhang
  • Jiancheng Wang
  • Hongyu ZhouEmail author
Article

Abstract

Cerebral cavernous malformation (CCM) is a congenital vascular anomaly that predominantly involves the central nervous system (CNS). CCM occurs in either a sporadic or an inherited form; the latter is called familial cerebral cavernous malformation (FCCM). FCCM has an autosomal dominant transmission with incomplete penetrance and variable clinical expression that is associated with germline mutations in the CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. Herein, we disclose two novel heterozygous mutations in the CCM2 gene in a Chinese family: a deletion mutation (c.55C>T; p. R19X, 426) in exon 2 and a mutation (c.*18G>A) in the noncoding region of exon 10. Our findings provide new CCM2 gene mutation profiles and further evidence for phenotypic heterogeneity.

Keywords

Familial cerebral cavernous malformation Susceptibility-weighted imaging CCM2 mutation Novel mutations 

Notes

Funding

This work was supported by the Sichuan Science and Technology Program (No. 2018SZ0388) and by the Fundamental Research Funds for the Central Universities (No. 2017SCU11049).

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

12031_2018_1254_MOESM1_ESM.docx (20 kb)
ESM 1 (DOCX 19 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Neurology, West China HospitalSichuan UniversityChengduChina

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