A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report

Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement ster...

Descripción completa

Detalles Bibliográficos
Autores principales: Bernaciak, Joanna, Wiśniowiecka-Kowalnik, Barbara, Castañeda, Jennifer, Kutkowska-Kaźmierczak, Anna, Nowakowska, Beata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2017
Materias:
Original Articles/Prace Oryginalne
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522974/
https://www.ncbi.nlm.nih.gov/pubmed/28796977
http://dx.doi.org/10.34763/devperiodmed.20172102.9194
_version_ 1784585198179975168
author Bernaciak, Joanna
Wiśniowiecka-Kowalnik, Barbara
Castañeda, Jennifer
Kutkowska-Kaźmierczak, Anna
Nowakowska, Beata
author_facet Bernaciak, Joanna
Wiśniowiecka-Kowalnik, Barbara
Castañeda, Jennifer
Kutkowska-Kaźmierczak, Anna
Nowakowska, Beata
author_sort Bernaciak, Joanna
collection PubMed
description Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient.
format Online
Article
Text
id pubmed-8522974
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Sciendo
record_format MEDLINE/PubMed
spelling pubmed-85229742021-11-19 A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report Bernaciak, Joanna Wiśniowiecka-Kowalnik, Barbara Castañeda, Jennifer Kutkowska-Kaźmierczak, Anna Nowakowska, Beata Dev Period Med Original Articles/Prace Oryginalne Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient. Sciendo 2017-08-11 /pmc/articles/PMC8522974/ /pubmed/28796977 http://dx.doi.org/10.34763/devperiodmed.20172102.9194 Text en © 2017 Joanna Bernaciak, Barbara Wiśniowiecka-Kowalnik, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Beata Nowakowska, published by Sciendo https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License.
spellingShingle Original Articles/Prace Oryginalne
Bernaciak, Joanna
Wiśniowiecka-Kowalnik, Barbara
Castañeda, Jennifer
Kutkowska-Kaźmierczak, Anna
Nowakowska, Beata
A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report
title A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report
title_full A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report
title_fullStr A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report
title_full_unstemmed A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report
title_short A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report
title_sort novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders − case report
topic Original Articles/Prace Oryginalne
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522974/
https://www.ncbi.nlm.nih.gov/pubmed/28796977
http://dx.doi.org/10.34763/devperiodmed.20172102.9194
work_keys_str_mv AT bernaciakjoanna anoveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT wisniowieckakowalnikbarbara anoveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT castanedajennifer anoveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT kutkowskakazmierczakanna anoveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT nowakowskabeata anoveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT bernaciakjoanna noveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT wisniowieckakowalnikbarbara noveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT castanedajennifer noveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT kutkowskakazmierczakanna noveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport
AT nowakowskabeata noveldenovo20q1311q1312microdeletioninaboywithneurodevelopmentaldisorderscasereport

Ejemplares similares