8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
Microduplication of chromosome 8q22.1 is mainly associated to Leri’s pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not syste...
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doaj-5b2b29cd5d0c480c860c371231cbf4f12020-11-24T21:02:21ZengHindawi LimitedCase Reports in Medicine1687-96271687-96352018-01-01201810.1155/2018/387142538714258q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case ReportAntonella Gagliano0Erica Pironti1Francesca Cucinotta2Cecilia Galati3Roberta Maggio4Maria Ausilia Alquino5Gabriella Di Rosa6Department of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, ItalyDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, ItalyDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, ItalyDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, ItalyDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, ItalyDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, ItalyDepartment of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, ItalyMicroduplication of chromosome 8q22.1 is mainly associated to Leri’s pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri’s pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.http://dx.doi.org/10.1155/2018/3871425 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Antonella Gagliano Erica Pironti Francesca Cucinotta Cecilia Galati Roberta Maggio Maria Ausilia Alquino Gabriella Di Rosa |
spellingShingle |
Antonella Gagliano Erica Pironti Francesca Cucinotta Cecilia Galati Roberta Maggio Maria Ausilia Alquino Gabriella Di Rosa 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report Case Reports in Medicine |
author_facet |
Antonella Gagliano Erica Pironti Francesca Cucinotta Cecilia Galati Roberta Maggio Maria Ausilia Alquino Gabriella Di Rosa |
author_sort |
Antonella Gagliano |
title |
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report |
title_short |
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report |
title_full |
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report |
title_fullStr |
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report |
title_full_unstemmed |
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report |
title_sort |
8q22.1 microduplication syndrome: why the brain should be spared? a literature review and a case report |
publisher |
Hindawi Limited |
series |
Case Reports in Medicine |
issn |
1687-9627 1687-9635 |
publishDate |
2018-01-01 |
description |
Microduplication of chromosome 8q22.1 is mainly associated to Leri’s pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri’s pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders. |
url |
http://dx.doi.org/10.1155/2018/3871425 |
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