Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and p...

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Autores principales: Farrell, Martilias, Lichtenstein, Maya, Harner, Matthew K., Crowley, James J., Filmyer, Dawn M., Lázaro-Muñoz, Gabriel, Dietterich, Tyler E., Bruno, Lisa M., Shaughnessy, Rita A., Biondi, Tamara F., Burkholder, Stephan, Donmoyer, Jane, Berg, Jonathan S., Szatkiewicz, Jin, Sullivan, Patrick F., Josiassen, Richard C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026068/
https://www.ncbi.nlm.nih.gov/pubmed/32066678
http://dx.doi.org/10.1038/s41398-020-0725-x
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author Farrell, Martilias
Lichtenstein, Maya
Harner, Matthew K.
Crowley, James J.
Filmyer, Dawn M.
Lázaro-Muñoz, Gabriel
Dietterich, Tyler E.
Bruno, Lisa M.
Shaughnessy, Rita A.
Biondi, Tamara F.
Burkholder, Stephan
Donmoyer, Jane
Berg, Jonathan S.
Szatkiewicz, Jin
Sullivan, Patrick F.
Josiassen, Richard C.
author_facet Farrell, Martilias
Lichtenstein, Maya
Harner, Matthew K.
Crowley, James J.
Filmyer, Dawn M.
Lázaro-Muñoz, Gabriel
Dietterich, Tyler E.
Bruno, Lisa M.
Shaughnessy, Rita A.
Biondi, Tamara F.
Burkholder, Stephan
Donmoyer, Jane
Berg, Jonathan S.
Szatkiewicz, Jin
Sullivan, Patrick F.
Josiassen, Richard C.
author_sort Farrell, Martilias
collection PubMed
description The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and psychosis). In this case report (supported by extensive developmental information and medication history), we present the complex clinical portrait of a 44-year-old woman with 15q11.2 BP1-BP2 deletion syndrome and chronic, treatment-resistant psychotic symptoms who has resided nearly her entire adult life in a long-term state psychiatric institution. Diagnostic and treatment implications are discussed.
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spelling pubmed-70260682020-03-03 Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature Farrell, Martilias Lichtenstein, Maya Harner, Matthew K. Crowley, James J. Filmyer, Dawn M. Lázaro-Muñoz, Gabriel Dietterich, Tyler E. Bruno, Lisa M. Shaughnessy, Rita A. Biondi, Tamara F. Burkholder, Stephan Donmoyer, Jane Berg, Jonathan S. Szatkiewicz, Jin Sullivan, Patrick F. Josiassen, Richard C. Transl Psychiatry Article The 15q11.2 BP1-BP2 (Burnside-Butler) deletion is a rare copy number variant impacting four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5), and carries increased risks for developmental delay, intellectual disability, and neuropsychiatric disorders (attention-deficit/hyperactivity disorder, autism, and psychosis). In this case report (supported by extensive developmental information and medication history), we present the complex clinical portrait of a 44-year-old woman with 15q11.2 BP1-BP2 deletion syndrome and chronic, treatment-resistant psychotic symptoms who has resided nearly her entire adult life in a long-term state psychiatric institution. Diagnostic and treatment implications are discussed. Nature Publishing Group UK 2020-01-28 /pmc/articles/PMC7026068/ /pubmed/32066678 http://dx.doi.org/10.1038/s41398-020-0725-x Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Farrell, Martilias
Lichtenstein, Maya
Harner, Matthew K.
Crowley, James J.
Filmyer, Dawn M.
Lázaro-Muñoz, Gabriel
Dietterich, Tyler E.
Bruno, Lisa M.
Shaughnessy, Rita A.
Biondi, Tamara F.
Burkholder, Stephan
Donmoyer, Jane
Berg, Jonathan S.
Szatkiewicz, Jin
Sullivan, Patrick F.
Josiassen, Richard C.
Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
title Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
title_full Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
title_fullStr Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
title_full_unstemmed Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
title_short Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature
title_sort treatment-resistant psychotic symptoms and the 15q11.2 bp1–bp2 (burnside-butler) deletion syndrome: case report and review of the literature
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026068/
https://www.ncbi.nlm.nih.gov/pubmed/32066678
http://dx.doi.org/10.1038/s41398-020-0725-x
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