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Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders
BACKGROUND: There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these diso...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687626/ https://www.ncbi.nlm.nih.gov/pubmed/31254375 http://dx.doi.org/10.1002/mgg3.786 |
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author | Bitar, Tania Hleihel, Walid Marouillat, Sylviane Vonwill, Sandrine Vuillaume, Marie‐Laure Soufia, Michel Vourc'h, Patrick Laumonnier, Frederic Andres, Christian R. |
author_facet | Bitar, Tania Hleihel, Walid Marouillat, Sylviane Vonwill, Sandrine Vuillaume, Marie‐Laure Soufia, Michel Vourc'h, Patrick Laumonnier, Frederic Andres, Christian R. |
author_sort | Bitar, Tania |
collection | PubMed |
description | BACKGROUND: There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these disorders have not been totally explored. METHODS: Thus, the aim of our work was to identify rare CNVs and genes present in these regions in ASD children, using a high‐resolution comparative genomic hybridization technique and quantitative PCR (qPCR) approach. RESULTS: Our results have shown 60–70 chromosomal aberrations per patient. We have initially selected 66 CNVs that have been further assessed using qPCR. Finally, we have validated 22 CNVs including 11 deletions and 11 duplications. Ten CNVs are de novo, 11 are inherited and one of unknown origin of transmission. Among the CNVs detected, novel ASD candidate genes PJA2, SYNPO, APCS, and TAC1 have been identified in our group of Lebanese patients. In addition, previously described CNVs have been identified containing genes such as SHANK3, MBP, CHL1, and others. CONCLUSION: Our study broadens the population spectrum of studied ASD patients and adds new candidates at the list of genes contributing to these disorders. |
format | Online Article Text |
id | pubmed-6687626 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-66876262019-08-14 Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders Bitar, Tania Hleihel, Walid Marouillat, Sylviane Vonwill, Sandrine Vuillaume, Marie‐Laure Soufia, Michel Vourc'h, Patrick Laumonnier, Frederic Andres, Christian R. Mol Genet Genomic Med Original Articles BACKGROUND: There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these disorders have not been totally explored. METHODS: Thus, the aim of our work was to identify rare CNVs and genes present in these regions in ASD children, using a high‐resolution comparative genomic hybridization technique and quantitative PCR (qPCR) approach. RESULTS: Our results have shown 60–70 chromosomal aberrations per patient. We have initially selected 66 CNVs that have been further assessed using qPCR. Finally, we have validated 22 CNVs including 11 deletions and 11 duplications. Ten CNVs are de novo, 11 are inherited and one of unknown origin of transmission. Among the CNVs detected, novel ASD candidate genes PJA2, SYNPO, APCS, and TAC1 have been identified in our group of Lebanese patients. In addition, previously described CNVs have been identified containing genes such as SHANK3, MBP, CHL1, and others. CONCLUSION: Our study broadens the population spectrum of studied ASD patients and adds new candidates at the list of genes contributing to these disorders. John Wiley and Sons Inc. 2019-06-29 /pmc/articles/PMC6687626/ /pubmed/31254375 http://dx.doi.org/10.1002/mgg3.786 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Bitar, Tania Hleihel, Walid Marouillat, Sylviane Vonwill, Sandrine Vuillaume, Marie‐Laure Soufia, Michel Vourc'h, Patrick Laumonnier, Frederic Andres, Christian R. Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders |
title | Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders |
title_full | Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders |
title_fullStr | Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders |
title_full_unstemmed | Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders |
title_short | Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders |
title_sort | identification of rare copy number variations reveals pja2, apcs, synpo, and tac1 as novel candidate genes in autism spectrum disorders |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687626/ https://www.ncbi.nlm.nih.gov/pubmed/31254375 http://dx.doi.org/10.1002/mgg3.786 |
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