PMID: 11310633Apr 20, 2001Paper

Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations

Annals of Neurology
M LucasG Izquierdo

Abstract

Mutations in the Kritl gene have been recently discovered as the cause of hereditary cerebral cavernous angioma. We sought the possibility that de novo, noninherited mutations of Kritl also cause cavernous angioma. A patient with two cerebral malformations carries a heterozygous deletion of two base pairs (741delTC) in exon VI of the Kritl gene. The deletion initiates a frameshift mutation that, 23 amino acids downstream, encodes a TAA stop triplet replacing a CAT triplet of histidine at exon VII (H271X). Magnetic resonance images of the parents were normal, neither parent carries the 741delTC mutation, and both bear the wild-type sequence of exon VI. These findings document a de novo germline mutation in Kritl gene that causes cerebral cavernous malformations.

Citations

Sep 20, 2006·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Oguzkan SürücüUte Felbor
Jan 1, 2011·BMJ Case Reports·Sanjeev RajakulendranAngus Kennedy
Jan 22, 2003·Neurosurgery·Robert ShenkarIssam A Awad
Feb 3, 2004·Annals of Neurology·Christian DenierUNKNOWN Sociéte de Neurochirurgie de Langue Française
May 20, 2003·Clinical Genetics·P Brouillard, M Vikkula
Apr 6, 2005·Surgical Neurology·Ratul RaychaudhuriIssam A Awad
Dec 18, 2013·The International Journal of Biochemistry & Cell Biology·Juyeon Hwang, David C Pallas
Oct 2, 2007·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Sepideh Amin Hanjani

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