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RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism

Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by ritualistic-repetitive behaviors and impaired verbal and non-verbal communication. Objectives were to determine the contribution of genetic variation to ASDs in the Lebanese. Affymetrix Cytogenetics Whole-G...

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Autores principales: Soueid, Jihane, Kourtian, Silva, Makhoul, Nadine J., Makoukji, Joelle, Haddad, Sariah, Ghanem, Simona S., Kobeissy, Firas, Boustany, Rose-Mary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705475/
https://www.ncbi.nlm.nih.gov/pubmed/26742492
http://dx.doi.org/10.1038/srep19088
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author Soueid, Jihane
Kourtian, Silva
Makhoul, Nadine J.
Makoukji, Joelle
Haddad, Sariah
Ghanem, Simona S.
Kobeissy, Firas
Boustany, Rose-Mary
author_facet Soueid, Jihane
Kourtian, Silva
Makhoul, Nadine J.
Makoukji, Joelle
Haddad, Sariah
Ghanem, Simona S.
Kobeissy, Firas
Boustany, Rose-Mary
author_sort Soueid, Jihane
collection PubMed
description Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by ritualistic-repetitive behaviors and impaired verbal and non-verbal communication. Objectives were to determine the contribution of genetic variation to ASDs in the Lebanese. Affymetrix Cytogenetics Whole-Genome 2.7 M and CytoScan(™) HD Arrays were used to detect CNVs in 41 Lebanese autistic children and 35 non-autistic, developmentally delayed and intellectually disabled patients. 33 normal participants were used as controls. 16 de novo CNVs and 57 inherited CNVs, including recognized pathogenic 16p11.2 duplications and 2p16.3 deletions were identified. A duplication at 1q43 classified as likely pathogenic encompasses RYR2 as a potential ASD candidate gene. This previously identified CNV has been classified as both pathogenic, and, of uncertain significance. A duplication of unknown significance at 10q11.22, proposed as a modulator for phenotypic disease expression in Rett syndrome, was also identified. The novel potential autism susceptibility genes PTDSS1 and AREG were uncovered and warrant further genetic and functional analyses. Previously described and novel genetic targets in ASD were identified in Lebanese families with autism. These findings may lead to improved diagnosis of ASDs and informed genetic counseling, and may also lead to untapped therapeutic targets applicable to Lebanese and non-Lebanese patients.
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spelling pubmed-47054752016-01-19 RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism Soueid, Jihane Kourtian, Silva Makhoul, Nadine J. Makoukji, Joelle Haddad, Sariah Ghanem, Simona S. Kobeissy, Firas Boustany, Rose-Mary Sci Rep Article Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by ritualistic-repetitive behaviors and impaired verbal and non-verbal communication. Objectives were to determine the contribution of genetic variation to ASDs in the Lebanese. Affymetrix Cytogenetics Whole-Genome 2.7 M and CytoScan(™) HD Arrays were used to detect CNVs in 41 Lebanese autistic children and 35 non-autistic, developmentally delayed and intellectually disabled patients. 33 normal participants were used as controls. 16 de novo CNVs and 57 inherited CNVs, including recognized pathogenic 16p11.2 duplications and 2p16.3 deletions were identified. A duplication at 1q43 classified as likely pathogenic encompasses RYR2 as a potential ASD candidate gene. This previously identified CNV has been classified as both pathogenic, and, of uncertain significance. A duplication of unknown significance at 10q11.22, proposed as a modulator for phenotypic disease expression in Rett syndrome, was also identified. The novel potential autism susceptibility genes PTDSS1 and AREG were uncovered and warrant further genetic and functional analyses. Previously described and novel genetic targets in ASD were identified in Lebanese families with autism. These findings may lead to improved diagnosis of ASDs and informed genetic counseling, and may also lead to untapped therapeutic targets applicable to Lebanese and non-Lebanese patients. Nature Publishing Group 2016-01-08 /pmc/articles/PMC4705475/ /pubmed/26742492 http://dx.doi.org/10.1038/srep19088 Text en Copyright © 2016, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Article
Soueid, Jihane
Kourtian, Silva
Makhoul, Nadine J.
Makoukji, Joelle
Haddad, Sariah
Ghanem, Simona S.
Kobeissy, Firas
Boustany, Rose-Mary
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism
title RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism
title_full RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism
title_fullStr RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism
title_full_unstemmed RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism
title_short RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism
title_sort ryr2, ptdss1 and areg genes are implicated in a lebanese population-based study of copy number variation in autism
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705475/
https://www.ncbi.nlm.nih.gov/pubmed/26742492
http://dx.doi.org/10.1038/srep19088
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