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

Sciacca Francesca Luisa, Rizzo Ambra, Bedini Gloria, Capone Fioravante, Di Lazzaro Vincenzo, Nava Sara, Acerbi Francesco, Rossi Sebastiano Davide, Binelli Simona, Faragò Giuseppe, Gioppo Andrea, Grisoli Marina, Bruzzone Maria Grazia, Ferroli Paolo, Pantaleoni Chiara, Caputi Luigi, Vela Gomez Jesus, Parati Eugenio Agostino, Bersano Anna

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
JournalInternational Journal of Molecular Sciences
Volume19
Issue number11
DOIs
Publication statusPublished - Nov 20 2018
Externally publishedYes

Keywords

  • 15q13.3 microduplication
  • 18q21.32 microdeletion
  • genetic
  • moyamoya
  • syndrome

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

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