Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

<h4>Background</h4>Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromoso...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Marina Konyukh, Richard Delorme, Pauline Chaste, Claire Leblond, Nathalie Lemière, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, Ola Ståhlberg, Frederique Amsellem, I Carina Gillberg, Marie Christine Mouren-Simeoni, Evelyn Herbrecht, Fabien Fauchereau, Roberto Toro, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2011
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/3b65a7e1a29d49a99ca96c5fd1c82456
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:3b65a7e1a29d49a99ca96c5fd1c82456
record_format	dspace
spelling	oai:doaj.org-article:3b65a7e1a29d49a99ca96c5fd1c824562021-11-18T06:57:46ZVariations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.1932-620310.1371/journal.pone.0017289https://doaj.org/article/3b65a7e1a29d49a99ca96c5fd1c824562011-03-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21394203/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis of rare variations of 8 candidate genes among the 27 genes located in this region suggested SEZ6L2 as a compelling candidate.<h4>Methodology/principal findings</h4>We further explored the role of SEZ6L2 variations by screening its coding part in a group of 452 individuals, including 170 patients with ASD and 282 individuals from different ethnic backgrounds of the Human Genome Diversity Panel (HGDP), complementing the previously reported screening. We detected 7 previously unidentified non-synonymous variations of SEZ6L2 in ASD patients. We also identified 6 non-synonymous variations present only in HGDP. When we merged our results with the previously published, no enrichment of non-synonymous variation in SEZ6L2 was observed in the ASD group compared with controls.<h4>Conclusions/significance</h4>Our results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to ASD.Marina KonyukhRichard DelormePauline ChasteClaire LeblondNathalie LemièreGudrun NygrenHenrik AnckarsäterMaria RastamOla StåhlbergFrederique AmsellemI Carina GillbergMarie Christine Mouren-SimeoniEvelyn HerbrechtFabien FauchereauRoberto ToroChristopher GillbergMarion LeboyerThomas BourgeronPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 3, p e17289 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Marina Konyukh Richard Delorme Pauline Chaste Claire Leblond Nathalie Lemière Gudrun Nygren Henrik Anckarsäter Maria Rastam Ola Ståhlberg Frederique Amsellem I Carina Gillberg Marie Christine Mouren-Simeoni Evelyn Herbrecht Fabien Fauchereau Roberto Toro Christopher Gillberg Marion Leboyer Thomas Bourgeron Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
description	<h4>Background</h4>Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis of rare variations of 8 candidate genes among the 27 genes located in this region suggested SEZ6L2 as a compelling candidate.<h4>Methodology/principal findings</h4>We further explored the role of SEZ6L2 variations by screening its coding part in a group of 452 individuals, including 170 patients with ASD and 282 individuals from different ethnic backgrounds of the Human Genome Diversity Panel (HGDP), complementing the previously reported screening. We detected 7 previously unidentified non-synonymous variations of SEZ6L2 in ASD patients. We also identified 6 non-synonymous variations present only in HGDP. When we merged our results with the previously published, no enrichment of non-synonymous variation in SEZ6L2 was observed in the ASD group compared with controls.<h4>Conclusions/significance</h4>Our results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to ASD.
format	article
author	Marina Konyukh Richard Delorme Pauline Chaste Claire Leblond Nathalie Lemière Gudrun Nygren Henrik Anckarsäter Maria Rastam Ola Ståhlberg Frederique Amsellem I Carina Gillberg Marie Christine Mouren-Simeoni Evelyn Herbrecht Fabien Fauchereau Roberto Toro Christopher Gillberg Marion Leboyer Thomas Bourgeron
author_facet	Marina Konyukh Richard Delorme Pauline Chaste Claire Leblond Nathalie Lemière Gudrun Nygren Henrik Anckarsäter Maria Rastam Ola Ståhlberg Frederique Amsellem I Carina Gillberg Marie Christine Mouren-Simeoni Evelyn Herbrecht Fabien Fauchereau Roberto Toro Christopher Gillberg Marion Leboyer Thomas Bourgeron
author_sort	Marina Konyukh
title	Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
title_short	Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
title_full	Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
title_fullStr	Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
title_full_unstemmed	Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
title_sort	variations of the candidate sez6l2 gene on chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
publisher	Public Library of Science (PLoS)
publishDate	2011
url	https://doaj.org/article/3b65a7e1a29d49a99ca96c5fd1c82456
work_keys_str_mv	AT marinakonyukh variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT richarddelorme variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT paulinechaste variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT claireleblond variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT nathalielemiere variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT gudrunnygren variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT henrikanckarsater variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT mariarastam variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT olastahlberg variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT frederiqueamsellem variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT icarinagillberg variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT mariechristinemourensimeoni variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT evelynherbrecht variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT fabienfauchereau variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT robertotoro variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT christophergillberg variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT marionleboyer variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations AT thomasbourgeron variationsofthecandidatesez6l2geneonchromosome16p112inpatientswithautismspectrumdisordersandinhumanpopulations
_version_	1718424095972917248

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

Ejemplares similares