Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients

Autores
Gosso, Maria Florencia; Rohr, Cristian Oscar; Brun, Bianca; Mejico, Guadalupe; Madeira, Fernanda; Fay, Fabian; Klurfan, Melina; Vazquez, Martin Pablo
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat–Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2).
Fil: Gosso, Maria Florencia. Heritas S.a (heritas S.a); Argentina
Fil: Rohr, Cristian Oscar. Heritas S.a (heritas S.a); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Brun, Bianca. Heritas S.a (heritas S.a); Argentina
Fil: Mejico, Guadalupe. Heritas S.a (heritas S.a); Argentina
Fil: Madeira, Fernanda. Heritas S.a (heritas S.a); Argentina
Fil: Fay, Fabian. Heritas S.a (heritas S.a); Argentina
Fil: Klurfan, Melina. Casa Angelman; Argentina
Fil: Vazquez, Martin Pablo. Heritas S.a (heritas S.a); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Materia
Exome sequencing
Mowat-willson
NGS
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/161055
Acceder
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network_acronym_str CONICETDig
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network_name_str CONICET Digital (CONICET)
spelling Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patientsGosso, Maria FlorenciaRohr, Cristian OscarBrun, BiancaMejico, GuadalupeMadeira, FernandaFay, FabianKlurfan, MelinaVazquez, Martin PabloExome sequencingMowat-willsonNGShttps://purl.org/becyt/ford/3.4https://purl.org/becyt/ford/3Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat–Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2).Fil: Gosso, Maria Florencia. Heritas S.a (heritas S.a); ArgentinaFil: Rohr, Cristian Oscar. Heritas S.a (heritas S.a); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Brun, Bianca. Heritas S.a (heritas S.a); ArgentinaFil: Mejico, Guadalupe. Heritas S.a (heritas S.a); ArgentinaFil: Madeira, Fernanda. Heritas S.a (heritas S.a); ArgentinaFil: Fay, Fabian. Heritas S.a (heritas S.a); ArgentinaFil: Klurfan, Melina. Casa Angelman; ArgentinaFil: Vazquez, Martin Pablo. Heritas S.a (heritas S.a); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaNature Publishing Group2018-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/161055Gosso, Maria Florencia; Rohr, Cristian Oscar; Brun, Bianca; Mejico, Guadalupe; Madeira, Fernanda; et al.; Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients; Nature Publishing Group; Human Genome Variation; 5; 1; 8-2018; 1-52054-345XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.nature.com/articles/s41439-018-0021-yinfo:eu-repo/semantics/altIdentifier/doi/10.1038/s41439-018-0021-yinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:56:38Zoai:ri.conicet.gov.ar:11336/161055instacron: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 09:56:39.298CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
spellingShingle Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
Gosso, Maria Florencia
Exome sequencing
Mowat-willson
NGS
title_short Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_full Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_fullStr Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_full_unstemmed Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
title_sort Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
dc.creator.none.fl_str_mv Gosso, Maria Florencia
Rohr, Cristian Oscar
Brun, Bianca
Mejico, Guadalupe
Madeira, Fernanda
Fay, Fabian
Klurfan, Melina
Vazquez, Martin Pablo
author Gosso, Maria Florencia
author_facet Gosso, Maria Florencia
Rohr, Cristian Oscar
Brun, Bianca
Mejico, Guadalupe
Madeira, Fernanda
Fay, Fabian
Klurfan, Melina
Vazquez, Martin Pablo
author_role author
author2 Rohr, Cristian Oscar
Brun, Bianca
Mejico, Guadalupe
Madeira, Fernanda
Fay, Fabian
Klurfan, Melina
Vazquez, Martin Pablo
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Exome sequencing
Mowat-willson
NGS
topic Exome sequencing
Mowat-willson
NGS
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.4
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat–Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2).
Fil: Gosso, Maria Florencia. Heritas S.a (heritas S.a); Argentina
Fil: Rohr, Cristian Oscar. Heritas S.a (heritas S.a); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Brun, Bianca. Heritas S.a (heritas S.a); Argentina
Fil: Mejico, Guadalupe. Heritas S.a (heritas S.a); Argentina
Fil: Madeira, Fernanda. Heritas S.a (heritas S.a); Argentina
Fil: Fay, Fabian. Heritas S.a (heritas S.a); Argentina
Fil: Klurfan, Melina. Casa Angelman; Argentina
Fil: Vazquez, Martin Pablo. Heritas S.a (heritas S.a); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
description Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic facial gestalt of Mowat–Wilson syndrome allows it to be distinguished easily from ALS. We report two cases in which an exome-first approach of patients with MWS identified two novel deletions in the ZEB2 gene ranging from a 4 base deletion (case 1) to at least a 573 Kb deletion (case 2).
publishDate 2018
dc.date.none.fl_str_mv 2018-08
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/11336/161055
Gosso, Maria Florencia; Rohr, Cristian Oscar; Brun, Bianca; Mejico, Guadalupe; Madeira, Fernanda; et al.; Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients; Nature Publishing Group; Human Genome Variation; 5; 1; 8-2018; 1-5
2054-345X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/161055
identifier_str_mv Gosso, Maria Florencia; Rohr, Cristian Oscar; Brun, Bianca; Mejico, Guadalupe; Madeira, Fernanda; et al.; Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients; Nature Publishing Group; Human Genome Variation; 5; 1; 8-2018; 1-5
2054-345X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.nature.com/articles/s41439-018-0021-y
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41439-018-0021-y
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
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
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score 13.13397

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