Targeted gene under study:
601284
Abstract
We have identified a variant in ACVRL1 in a patient presenting with Galen aneuvrysmal malformation (GAM). These malformation types are particularly rare and poor characterized in a genetic point of view. Only few genes have been described in these severe forms of congenital brain arteriovenous malformations. AVRL1 was reported in GAM, but only 4 cases are described in the literature. We aim to further describe the genotype-phenotype correlation in this kind of malformations, with the description of new ACRL1 variants in patients with Galen aneuvrysmal malformations.
Coordinating clinicians
Camille Bergès – camille.berges@chu-bordeaux.fr
Claire Beneteau – claire.beneteau@chu-bordeaux.fr
Institution
Service de génétique moléculaire, CHU de Bordeaux
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No