A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome

Autores
Delgado, L M; Gutierrez, M.; Augello, B; Fusco, C; Micale, L; Merla, G; Pastene, E. A.
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Fil: Delgado, L.M. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.
Fil: Gutierrez, M. Hospital General de Niños Dr. Pedro Elizalde. Servicio de Genética; Buenos aires, Argentina.
Fil: Augello, B. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
Fil: Fusco, C. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
Fil: Micale, L. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
Fil: Merla, G. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
Fil: Pastene, E.A. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.
Williams-Beuren syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.
Materia
Variación Estructural del Genoma
Duplicaciones Segmentarias en el Genoma
Síndrome de Williams
Nivel de accesibilidad
acceso abierto
Condiciones de uso
Repositorio
Sistema de Gestión del Conocimiento ANLIS MALBRÁN
Institución
Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
OAI Identificador
oai:sgc.anlis.gob.ar:Publications/123456789/1694
Acceder
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spelling A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndromeDelgado, L MGutierrez, M.Augello, BFusco, CMicale, LMerla, GPastene, E. A.Variación Estructural del GenomaDuplicaciones Segmentarias en el GenomaSíndrome de WilliamsFil: Delgado, L.M. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.Fil: Gutierrez, M. Hospital General de Niños Dr. Pedro Elizalde. Servicio de Genética; Buenos aires, Argentina.Fil: Augello, B. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.Fil: Fusco, C. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.Fil: Micale, L. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.Fil: Merla, G. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.Fil: Pastene, E.A. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.Williams-Beuren syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.2013-03info:ar-repo/semantics/articuloinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdf1661-8769http://sgc.anlis.gob.ar/handle/123456789/169410.1159/000347167Molecular syndromologyenginfo:eu-repo/semantics/openAccessreponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁNinstname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"instacron:ANLIS2025-09-11T10:51:21Zoai:sgc.anlis.gob.ar:Publications/123456789/1694Institucionalhttp://sgc.anlis.gob.ar/Organismo científico-tecnológicoNo correspondehttp://sgc.anlis.gob.ar/oai/biblioteca@anlis.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:a2025-09-11 10:51:21.661Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"false
dc.title.none.fl_str_mv A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
title A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
spellingShingle A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
Delgado, L M
Variación Estructural del Genoma
Duplicaciones Segmentarias en el Genoma
Síndrome de Williams
title_short A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
title_full A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
title_fullStr A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
title_full_unstemmed A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
title_sort A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
dc.creator.none.fl_str_mv Delgado, L M
Gutierrez, M.
Augello, B
Fusco, C
Micale, L
Merla, G
Pastene, E. A.
author Delgado, L M
author_facet Delgado, L M
Gutierrez, M.
Augello, B
Fusco, C
Micale, L
Merla, G
Pastene, E. A.
author_role author
author2 Gutierrez, M.
Augello, B
Fusco, C
Micale, L
Merla, G
Pastene, E. A.
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Variación Estructural del Genoma
Duplicaciones Segmentarias en el Genoma
Síndrome de Williams
topic Variación Estructural del Genoma
Duplicaciones Segmentarias en el Genoma
Síndrome de Williams
dc.description.none.fl_txt_mv Fil: Delgado, L.M. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.
Fil: Gutierrez, M. Hospital General de Niños Dr. Pedro Elizalde. Servicio de Genética; Buenos aires, Argentina.
Fil: Augello, B. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
Fil: Fusco, C. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
Fil: Micale, L. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
Fil: Merla, G. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
Fil: Pastene, E.A. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.
Williams-Beuren syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.
description Fil: Delgado, L.M. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.
publishDate 2013
dc.date.none.fl_str_mv 2013-03
dc.type.none.fl_str_mv info:ar-repo/semantics/articulo
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv 1661-8769
http://sgc.anlis.gob.ar/handle/123456789/1694
10.1159/000347167
identifier_str_mv 1661-8769
10.1159/000347167
url http://sgc.anlis.gob.ar/handle/123456789/1694
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Molecular syndromology
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron:ANLIS
reponame_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
collection Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname_str Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron_str ANLIS
institution ANLIS
repository.name.fl_str_mv Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
repository.mail.fl_str_mv biblioteca@anlis.gov.ar
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score 12.993085

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