[Angelman syndrome and intracranial aneurysm: fortuitous association or commune genetic predisposition?]
S Meyer Witte1, C Espil-Taris, C Cenraud
1Service de neuropédiatrie, département de pédiatrie, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux cedex, France. sophiewitte@wanadoo.fr
Abstract:
Although the pathogenesis of cerebral aneurysms has been studied intensively, it is yet poorly understood. However, a genetic predisposition to this pathology has been often suspected. We describe a patient with both intracranial aneurysm and Angelman syndrome. Angelman syndrome is characterized by severe mental retardation, inappropriate laughter, absent speech, dysmorphic facial features and seizures. It is due to genetic abnormalities of chromosome 15. Cerebral aneurysms are sometimes associated with inherited diseases like autosomal dominant polycystic kidney disease. Moreover several candidate genes have been analysed, to search for genetic variants which might be associated with the occurrence of intracranial aneurysms. Our question is: is the association described in our observation fortuitous or do these diseases share a same genetic predisposition? Our observation also supports the hypothesis of a genetic participation in the genesis of cerebral aneurysms.
Related Concept Videos
Aneurysm I: Introduction
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Genetic Lingo
Alzheimer Disease l: Introduction
Pleiotropy


