Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
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 ang...
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doaj-93532ae7ab564bebb7ff93fa0594d0802020-11-24T21:11:06ZengMDPI AGInternational Journal of Molecular Sciences1422-00672018-11-011911367510.3390/ijms19113675ijms19113675Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya SyndromeSciacca Francesca Luisa0Rizzo Ambra1Bedini Gloria2Capone Fioravante3Di Lazzaro Vincenzo4Nava Sara5Acerbi Francesco6Rossi Sebastiano Davide7Binelli Simona8Faragò Giuseppe9Gioppo Andrea10Grisoli Marina11Bruzzone Maria Grazia12Ferroli Paolo13Pantaleoni Chiara14Caputi Luigi15Vela Gomez Jesus16Parati Eugenio Agostino17Bersano Anna18Dipartimento di Diagnostica e Tecnologia Applicata, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyDipartimento di Diagnostica e Tecnologia Applicata, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyLaboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyUnit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, 00128 Rome, ItalyUnit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Università Campus Bio-Medico di Roma, 00128 Rome, ItalyLaboratory of Cellular Neurobiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyNeurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyNeurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyNeurophysiopathology Department and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyNeuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyNeuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyNeuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyNeuroradiological Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyNeurosurgical Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyDevelopmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyCerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, ItalyMoyamoya 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.https://www.mdpi.com/1422-0067/19/11/3675moyamoyageneticsyndrome15q13.3 microduplication18q21.32 microdeletion |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
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 |
spellingShingle |
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 Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome International Journal of Molecular Sciences moyamoya genetic syndrome 15q13.3 microduplication 18q21.32 microdeletion |
author_facet |
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 |
author_sort |
Sciacca Francesca Luisa |
title |
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome |
title_short |
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome |
title_full |
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome |
title_fullStr |
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome |
title_full_unstemmed |
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome |
title_sort |
microduplication of 15q13.3 and microdeletion of 18q21.32 in a patient with moyamoya syndrome |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2018-11-01 |
description |
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. |
topic |
moyamoya genetic syndrome 15q13.3 microduplication 18q21.32 microdeletion |
url |
https://www.mdpi.com/1422-0067/19/11/3675 |
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