Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through mu...

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Autores principales:	Danielle P Moreira, Karina Griesi-Oliveira, Ana L Bossolani-Martins, Naila C V Lourenço, Vanessa N O Takahashi, Kátia M da Rocha, Eloisa S Moreira, Estevão Vadasz, Joanna Goes Castro Meira, Debora Bertola, Eoghan O'Halloran, Tiago R Magalhães, Agnes C Fett-Conte, Maria Rita Passos-Bueno
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d49f0148101a47f7a65531924806f78e
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spelling	oai:doaj.org-article:d49f0148101a47f7a65531924806f78e2021-11-25T05:59:15ZInvestigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.1932-620310.1371/journal.pone.0107705https://doaj.org/article/d49f0148101a47f7a65531924806f78e2014-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0107705https://doaj.org/toc/1932-6203Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p<0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy.Danielle P MoreiraKarina Griesi-OliveiraAna L Bossolani-MartinsNaila C V LourençoVanessa N O TakahashiKátia M da RochaEloisa S MoreiraEstevão VadaszJoanna Goes Castro MeiraDebora BertolaEoghan O'HalloranTiago R MagalhãesAgnes C Fett-ConteMaria Rita Passos-BuenoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 9, p e107705 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Danielle P Moreira Karina Griesi-Oliveira Ana L Bossolani-Martins Naila C V Lourenço Vanessa N O Takahashi Kátia M da Rocha Eloisa S Moreira Estevão Vadasz Joanna Goes Castro Meira Debora Bertola Eoghan O'Halloran Tiago R Magalhães Agnes C Fett-Conte Maria Rita Passos-Bueno Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
description	Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p<0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy.
format	article
author	Danielle P Moreira Karina Griesi-Oliveira Ana L Bossolani-Martins Naila C V Lourenço Vanessa N O Takahashi Kátia M da Rocha Eloisa S Moreira Estevão Vadasz Joanna Goes Castro Meira Debora Bertola Eoghan O'Halloran Tiago R Magalhães Agnes C Fett-Conte Maria Rita Passos-Bueno
author_facet	Danielle P Moreira Karina Griesi-Oliveira Ana L Bossolani-Martins Naila C V Lourenço Vanessa N O Takahashi Kátia M da Rocha Eloisa S Moreira Estevão Vadasz Joanna Goes Castro Meira Debora Bertola Eoghan O'Halloran Tiago R Magalhães Agnes C Fett-Conte Maria Rita Passos-Bueno
author_sort	Danielle P Moreira
title	Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
title_short	Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
title_full	Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
title_fullStr	Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
title_full_unstemmed	Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
title_sort	investigation of 15q11-q13, 16p11.2 and 22q13 cnvs in autism spectrum disorder brazilian individuals with and without epilepsy.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/d49f0148101a47f7a65531924806f78e
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Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

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