Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility

Autores
Domene, Sabina; Stanescu, Horia; Wallis, Deeann; Tinloy, Bradford; Pineda, Daniel E.; Kleta, Robert; Arcos Burgos, Mauricio; Roessler, Erich; Muenke, Maximilian
Año de publicación
2011
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Attention deficit hyperactivity disorder (ADHD) is the most common behavioral disorder in childhood, and often has effects detectable into adulthood. Advances in genetic linkage and association analysis have begun to elucidate some of the genetic factors underlying this complex disorder. Recently, we identified LPHN3, a novel ADHD susceptibility gene harbored in 4q, and showed that a LPHN3 common haplotype confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Here we present the mutational analysis of the entire coding region of LPHN3 in a cohort of 139 ADHD subjects and 52 controls from across the USA. We identified 21 variants, of which 14 have been reported and 7 are novel. These include 5 missense, 8 synonymous, and 8 intronic changes. Interestingly, neither susceptibility nor protective haplotype alleles are associated with obviously significant coding region changes, or canonical splice site alterations, suggesting that non-coding variations determining the quantity and/or quality of LPHN3 isoforms are the likely contributors to this common behavioral disorder.
Fil: Domene, Sabina. National Institutes of Health; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Stanescu, Horia. National Institutes of Health; Estados Unidos
Fil: Wallis, Deeann. Texas A&M University; Estados Unidos
Fil: Tinloy, Bradford. National Institutes of Health; Estados Unidos
Fil: Pineda, Daniel E.. National Institutes of Health; Estados Unidos
Fil: Kleta, Robert. National Institutes of Health; Estados Unidos
Fil: Arcos Burgos, Mauricio. National Institutes of Health; Estados Unidos
Fil: Roessler, Erich. National Institutes of Health; Estados Unidos
Fil: Muenke, Maximilian. National Institutes of Health; Estados Unidos
Materia
Adhd
Behavioral Genetics
Complex Inheritance
Latrophilin
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/79583
Acceder
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network_acronym_str CONICETDig
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network_name_str CONICET Digital (CONICET)
spelling Screening of human LPHN3 for variants with a potential impact on ADHD susceptibilityDomene, SabinaStanescu, HoriaWallis, DeeannTinloy, BradfordPineda, Daniel E.Kleta, RobertArcos Burgos, MauricioRoessler, ErichMuenke, MaximilianAdhdBehavioral GeneticsComplex InheritanceLatrophilinhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Attention deficit hyperactivity disorder (ADHD) is the most common behavioral disorder in childhood, and often has effects detectable into adulthood. Advances in genetic linkage and association analysis have begun to elucidate some of the genetic factors underlying this complex disorder. Recently, we identified LPHN3, a novel ADHD susceptibility gene harbored in 4q, and showed that a LPHN3 common haplotype confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Here we present the mutational analysis of the entire coding region of LPHN3 in a cohort of 139 ADHD subjects and 52 controls from across the USA. We identified 21 variants, of which 14 have been reported and 7 are novel. These include 5 missense, 8 synonymous, and 8 intronic changes. Interestingly, neither susceptibility nor protective haplotype alleles are associated with obviously significant coding region changes, or canonical splice site alterations, suggesting that non-coding variations determining the quantity and/or quality of LPHN3 isoforms are the likely contributors to this common behavioral disorder.Fil: Domene, Sabina. National Institutes of Health; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Stanescu, Horia. National Institutes of Health; Estados UnidosFil: Wallis, Deeann. Texas A&M University; Estados UnidosFil: Tinloy, Bradford. National Institutes of Health; Estados UnidosFil: Pineda, Daniel E.. National Institutes of Health; Estados UnidosFil: Kleta, Robert. National Institutes of Health; Estados UnidosFil: Arcos Burgos, Mauricio. National Institutes of Health; Estados UnidosFil: Roessler, Erich. National Institutes of Health; Estados UnidosFil: Muenke, Maximilian. National Institutes of Health; Estados UnidosWiley-liss, Div John Wiley & Sons Inc2011-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/zipapplication/pdfhttp://hdl.handle.net/11336/79583Domene, Sabina; Stanescu, Horia; Wallis, Deeann; Tinloy, Bradford; Pineda, Daniel E.; et al.; Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility; Wiley-liss, Div John Wiley & Sons Inc; American Journal Of Medical Genetics Part B-neuropsychiatric Genetics; 156; 1; 1-2011; 11-181552-4841CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.31141info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.b.31141info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:56:21Zoai:ri.conicet.gov.ar:11336/79583instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:56:21.578CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
title Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
spellingShingle Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
Domene, Sabina
Adhd
Behavioral Genetics
Complex Inheritance
Latrophilin
title_short Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
title_full Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
title_fullStr Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
title_full_unstemmed Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
title_sort Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility
dc.creator.none.fl_str_mv Domene, Sabina
Stanescu, Horia
Wallis, Deeann
Tinloy, Bradford
Pineda, Daniel E.
Kleta, Robert
Arcos Burgos, Mauricio
Roessler, Erich
Muenke, Maximilian
author Domene, Sabina
author_facet Domene, Sabina
Stanescu, Horia
Wallis, Deeann
Tinloy, Bradford
Pineda, Daniel E.
Kleta, Robert
Arcos Burgos, Mauricio
Roessler, Erich
Muenke, Maximilian
author_role author
author2 Stanescu, Horia
Wallis, Deeann
Tinloy, Bradford
Pineda, Daniel E.
Kleta, Robert
Arcos Burgos, Mauricio
Roessler, Erich
Muenke, Maximilian
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Adhd
Behavioral Genetics
Complex Inheritance
Latrophilin
topic Adhd
Behavioral Genetics
Complex Inheritance
Latrophilin
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Attention deficit hyperactivity disorder (ADHD) is the most common behavioral disorder in childhood, and often has effects detectable into adulthood. Advances in genetic linkage and association analysis have begun to elucidate some of the genetic factors underlying this complex disorder. Recently, we identified LPHN3, a novel ADHD susceptibility gene harbored in 4q, and showed that a LPHN3 common haplotype confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Here we present the mutational analysis of the entire coding region of LPHN3 in a cohort of 139 ADHD subjects and 52 controls from across the USA. We identified 21 variants, of which 14 have been reported and 7 are novel. These include 5 missense, 8 synonymous, and 8 intronic changes. Interestingly, neither susceptibility nor protective haplotype alleles are associated with obviously significant coding region changes, or canonical splice site alterations, suggesting that non-coding variations determining the quantity and/or quality of LPHN3 isoforms are the likely contributors to this common behavioral disorder.
Fil: Domene, Sabina. National Institutes of Health; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Stanescu, Horia. National Institutes of Health; Estados Unidos
Fil: Wallis, Deeann. Texas A&M University; Estados Unidos
Fil: Tinloy, Bradford. National Institutes of Health; Estados Unidos
Fil: Pineda, Daniel E.. National Institutes of Health; Estados Unidos
Fil: Kleta, Robert. National Institutes of Health; Estados Unidos
Fil: Arcos Burgos, Mauricio. National Institutes of Health; Estados Unidos
Fil: Roessler, Erich. National Institutes of Health; Estados Unidos
Fil: Muenke, Maximilian. National Institutes of Health; Estados Unidos
description Attention deficit hyperactivity disorder (ADHD) is the most common behavioral disorder in childhood, and often has effects detectable into adulthood. Advances in genetic linkage and association analysis have begun to elucidate some of the genetic factors underlying this complex disorder. Recently, we identified LPHN3, a novel ADHD susceptibility gene harbored in 4q, and showed that a LPHN3 common haplotype confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Here we present the mutational analysis of the entire coding region of LPHN3 in a cohort of 139 ADHD subjects and 52 controls from across the USA. We identified 21 variants, of which 14 have been reported and 7 are novel. These include 5 missense, 8 synonymous, and 8 intronic changes. Interestingly, neither susceptibility nor protective haplotype alleles are associated with obviously significant coding region changes, or canonical splice site alterations, suggesting that non-coding variations determining the quantity and/or quality of LPHN3 isoforms are the likely contributors to this common behavioral disorder.
publishDate 2011
dc.date.none.fl_str_mv 2011-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/79583
Domene, Sabina; Stanescu, Horia; Wallis, Deeann; Tinloy, Bradford; Pineda, Daniel E.; et al.; Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility; Wiley-liss, Div John Wiley & Sons Inc; American Journal Of Medical Genetics Part B-neuropsychiatric Genetics; 156; 1; 1-2011; 11-18
1552-4841
CONICET Digital
CONICET
url http://hdl.handle.net/11336/79583
identifier_str_mv Domene, Sabina; Stanescu, Horia; Wallis, Deeann; Tinloy, Bradford; Pineda, Daniel E.; et al.; Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility; Wiley-liss, Div John Wiley & Sons Inc; American Journal Of Medical Genetics Part B-neuropsychiatric Genetics; 156; 1; 1-2011; 11-18
1552-4841
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.31141
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.b.31141
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/zip
application/pdf
dc.publisher.none.fl_str_mv Wiley-liss, Div John Wiley & Sons Inc
publisher.none.fl_str_mv Wiley-liss, Div John Wiley & Sons Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1842269399849893888
score 13.13397

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