Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

• Published in: International journal of molecular sciences 2018-11, Vol.19 (11), p.3675
• Main Authors: Luisa, Sciacca Francesca, Rizzo, Ambra, Bedini, Gloria, Capone, Fioravante, Di Lazzaro, Vincenzo, Nava, Sara, Acerbi, Francesco, Rossi, Davide Sebastiano, Binelli, Simona, Faragò, Giuseppe, Gioppo, Andrea, Grisoli, Marina, Bruzzone, Maria Grazia, Ferroli, Paolo, Pantaleoni, Chiara, Caputi, Luigi, Gomez, Jesus Vela, Parati, Eugenio Agostino, Bersano, Anna
• Format: Article
• Language: English
• Subjects: 15q13.3 microduplication; 18q21.32 microdeletion; Adult; Blood; Carotid arteries; Case Report; Cerebrovascular diseases; Chromosome Deletion; Chromosome Duplication; Chromosomes; Chromosomes, Human, Pair 15 - genetics; Chromosomes, Human, Pair 18 - genetics; Convulsions & seizures; Disease; Down's syndrome; Dysarthria; Enzymes; Female; Genes; genetic; Genetic diversity; Humans; Magnetic Resonance Imaging; Medical imaging; moyamoya; Moyamoya disease; Moyamoya Disease - diagnostic imaging; Moyamoya Disease - genetics; Mutation; Neurofibromatosis; Recklinghausen's disease; Stenosis; Susceptibility; syndrome; Veins & arteries
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms19113675

Moyamoya angiopathy (MA) is a cerebrovascular disease determining a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and their proximal branches and the compensatory development of abnormal "moyamoya" vessels. MA occurs as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes) including several heritable conditions such as Down syndrome, neurofibromatosis type 1 and other genomic defects. Although the mechanism that links MA to these genetic syndromes is still unclear, it is believed that the involved genes may contribute to the disease susceptibility. Herein, we describe the case of a 43 years old woman with bilateral MA and peculiar facial characteristics, having a 484-kb microduplication of the chromosomal region 15q13.3 and a previously unreported 786 kb microdeletion in 18q21.32. This patient may have a newly-recognized genetic syndrome associated with MA. Although the relationship between these genetic variants and MA is unclear, our report would contribute to widening the genetic scenario of MA, in which not only genic mutation, but also genome unbalances are possible candidate susceptibility factors.