A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations

Yi chuan xue bao = Acta genetica Sinica
Bao-Hu JiYu-Jiong Wang

Abstract

Cerebral Cavernous Malformations (CCM) are vascular malformations that are mostly located in the central nervous system (CNS) and occasionally within the skin and retina, which are classified into three types (CCM1, CCM2 and CCM3) by being located at different loci on chromosomes. At present, CCM1 (7q21), CCM2 (7p13-p15) and CCM3 (3q25.2-q27) are respectively linked to krit1 (Krev interaction trapped gene 1), MGC4607 and PDCD10 (programmed cell death 10). In this work, we identified a novel "GTA" deletion mutation at the acceptor splicing site of intron9/exon10 on krit1. The mutation results in an abnormally spliced protein by creating a premature termination code at the 23rd amino acid downstream from the sequence alteration. Our results are consistent with previous research on krit1 mutations and confirm the conclusion that KRIT1 haploinsufficiency may be the underlying mechanism of CCM1.

References

Jul 1, 1991·Journal of Medical Genetics·P H ByersM C Willing
Mar 1, 1995·Human Molecular Genetics·J DubovskyJ L Weber
Dec 18, 1998·Science·H KawasakiA M Graybiel
Dec 29, 1998·The Journal of Biological Chemistry·X A Zhang, M E Hemler
Jun 8, 1999·The Journal of Biological Chemistry·I SerebriiskiiE A Golemis
Oct 3, 1999·Nature Genetics·S Laberge-le CouteulxE Tournier-Lasserve
Mar 11, 2000·American Journal of Human Genetics·X YangL He
May 12, 2000·Neurosurgery·J ZhangH C Dietz
Mar 27, 2002·Neurology·D J VerlaanG A Rouleau
Apr 18, 2002·Journal of the Neurological Sciences·Dong-Hui ChenThomas D Bird
Jul 26, 2002·Proceedings of the National Academy of Sciences of the United States of America·Murat GunelRichard P Lifton
Oct 31, 2002·European Journal of Human Genetics : EJHG·Florence Cavé-RiantElisabeth Tournier-Lasserve

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cavernous Hemangioma

Cavernous hemangioma is a blood vessel defect or benign tumor that leads to leakage of blood to the surrounding tissues. This can occur in several organs including the brain, which can lead to seizures. Discover the latest research on cavernous hemangiomas here.