Cargando…
Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes
We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Clinical features included aggressive behavior, mood instability, suicidal statements, repetitive and restrictive beh...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9447451/ https://www.ncbi.nlm.nih.gov/pubmed/36082049 http://dx.doi.org/10.2147/TACG.S361239 |
_version_ | 1784783857262788608 |
---|---|
author | Maurer, Martin H Kohler, Anja Hudemann, Melanie Jüngling, Jerome Biskup, Saskia Menzel, Martin |
author_facet | Maurer, Martin H Kohler, Anja Hudemann, Melanie Jüngling, Jerome Biskup, Saskia Menzel, Martin |
author_sort | Maurer, Martin H |
collection | PubMed |
description | We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Clinical features included aggressive behavior, mood instability, suicidal statements, repetitive and restrictive behavior, sensitivity to noise, learning problems and dyslexia, though no intellectual disability was present. Using array-based comparative genomic hybridization (array-CGH), we identified two CNVs, both triplex duplications of 324 kb on 3p26.3, and 284 kb on 4q13.1, respectively. One of the CNVs is located on chromosome 4q13.1 in the region of the gene encoding for adhesion G protein-coupled receptor L3 (ADGRL3, former name: latrophilin-3, LPHN3), the other on chromosome 3p26.3 in the region of the two pseudogenes AC090043.1 and RPL23AP39. The patient described in the present study showed increased symptoms under methylphenidate treatment but responded positively to 3 mg per day of the atypical neuroleptic drug aripiprazole. To our knowledge, this is the first report of a CNV in the ADGRL3 gene and its first association with ASD in humans. |
format | Online Article Text |
id | pubmed-9447451 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-94474512022-09-07 Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes Maurer, Martin H Kohler, Anja Hudemann, Melanie Jüngling, Jerome Biskup, Saskia Menzel, Martin Appl Clin Genet Case Report We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Clinical features included aggressive behavior, mood instability, suicidal statements, repetitive and restrictive behavior, sensitivity to noise, learning problems and dyslexia, though no intellectual disability was present. Using array-based comparative genomic hybridization (array-CGH), we identified two CNVs, both triplex duplications of 324 kb on 3p26.3, and 284 kb on 4q13.1, respectively. One of the CNVs is located on chromosome 4q13.1 in the region of the gene encoding for adhesion G protein-coupled receptor L3 (ADGRL3, former name: latrophilin-3, LPHN3), the other on chromosome 3p26.3 in the region of the two pseudogenes AC090043.1 and RPL23AP39. The patient described in the present study showed increased symptoms under methylphenidate treatment but responded positively to 3 mg per day of the atypical neuroleptic drug aripiprazole. To our knowledge, this is the first report of a CNV in the ADGRL3 gene and its first association with ASD in humans. Dove 2022-09-02 /pmc/articles/PMC9447451/ /pubmed/36082049 http://dx.doi.org/10.2147/TACG.S361239 Text en © 2022 Maurer et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Case Report Maurer, Martin H Kohler, Anja Hudemann, Melanie Jüngling, Jerome Biskup, Saskia Menzel, Martin Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes |
title | Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes |
title_full | Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes |
title_fullStr | Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes |
title_full_unstemmed | Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes |
title_short | Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes |
title_sort | case report of a juvenile patient with autism spectrum disorder with a novel combination of copy number variants in adgrl3 (lphn3) and two pseudogenes |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9447451/ https://www.ncbi.nlm.nih.gov/pubmed/36082049 http://dx.doi.org/10.2147/TACG.S361239 |
work_keys_str_mv | AT maurermartinh casereportofajuvenilepatientwithautismspectrumdisorderwithanovelcombinationofcopynumbervariantsinadgrl3lphn3andtwopseudogenes AT kohleranja casereportofajuvenilepatientwithautismspectrumdisorderwithanovelcombinationofcopynumbervariantsinadgrl3lphn3andtwopseudogenes AT hudemannmelanie casereportofajuvenilepatientwithautismspectrumdisorderwithanovelcombinationofcopynumbervariantsinadgrl3lphn3andtwopseudogenes AT junglingjerome casereportofajuvenilepatientwithautismspectrumdisorderwithanovelcombinationofcopynumbervariantsinadgrl3lphn3andtwopseudogenes AT biskupsaskia casereportofajuvenilepatientwithautismspectrumdisorderwithanovelcombinationofcopynumbervariantsinadgrl3lphn3andtwopseudogenes AT menzelmartin casereportofajuvenilepatientwithautismspectrumdisorderwithanovelcombinationofcopynumbervariantsinadgrl3lphn3andtwopseudogenes |