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
Jan 1, 1997·Human Mutation·J KörkköL Ala-Kokko
Sep 8, 1997·The Journal of Cell Biology·D D ChangJ Liu
Aug 28, 1997·Oncogene·I SerebriiskiiE A Golemis
Nov 13, 1998·Human Molecular Genetics·H D CraigR P Lifton
Dec 18, 1998·Science·H KawasakiA M Graybiel
Dec 24, 1998·Lancet·P LabaugeE Tournier-Lasserve
Dec 29, 1998·The Journal of Biological Chemistry·X A Zhang, M E Hemler
Feb 16, 1999·Annals of Neurology·P LabaugeE Tournier-Lasserve
Jun 8, 1999·The Journal of Biological Chemistry·I SerebriiskiiE A Golemis
Oct 3, 1999·Nature Genetics·S Laberge-le CouteulxE Tournier-Lasserve
Nov 5, 1999·Human Molecular Genetics·T SahooD A Marchuk
Mar 11, 2000·American Journal of Human Genetics·X YangL He
May 12, 2000·Neurosurgery·J ZhangH C Dietz
May 18, 2000·Human Molecular Genetics·I EerolaM Vikkula
May 9, 2001·Biochimica Et Biophysica Acta·I EerolaM Vikkula
Jul 17, 2001·Nature Genetics·B GaoL He
Dec 14, 2001·Human Molecular Genetics·J ZhangH C Dietz
Feb 21, 2002·Human Molecular Genetics·Jon S ZawistowskiDouglas A Marchuk
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
Dec 31, 2003·Gene·Saverio Francesco RettaLorenzo Silengo
Citations
Sep 5, 2014·Journal of Molecular Neuroscience : MN·Hui ZhuJingyao Liu
Jul 30, 2010·PloS One·Luca GoitreSaverio Francesco Retta
Sep 22, 2016·Journal of Molecular Neuroscience : MN·Chenlong YangYulun Xu
Feb 6, 2007·Neurosurgery·Judith GaultIssam A Awad
Aug 29, 2019·Scientific Reports·Chun-Wei ChangSien-Tsong Chen
Jan 10, 2019·Frontiers in Neurology·Kang WangGuohua Zhao
Mar 4, 2017·Journal of Molecular Neuroscience : MN·Chenlong YangYulun Xu