Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations

Autores
Pardo, Viviane; Rubio, Ileana G.S.; Knobel, Meyer; Aguiar-Oliveira, Manoel H.; Santos, Marcos M.; Gomes, Simone A.; Oliveira, Carla R.P.; Targovnik, Hector Manuel; Medeiros Neto, Geraldo
Año de publicación
2008
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background: Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism. Summary: We found a novel compound heterozygous constellation (IVS30 + 1G>T/A2215D) in a brother and sister and one previously described related mutation (IVS30+1G>T) in their two sibling second degree cousins. The brother with the IVS30 + 1G>T/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism. Conclusions: This study further confirms the association of the IVS30+G>T mutation of the Tg gene with hypothyroidism. Computer analysis predicts that the A2215D mutation, first reported here, should cause structural instability of Tg but when present as a compound heterozygous mutation with IVS30+G>T/A its effect is unclear but is likely to be influenced by iodine intake.
Fil: Pardo, Viviane. Universidade de Sao Paulo; Brasil
Fil: Rubio, Ileana G.S.. Universidade de Sao Paulo; Brasil
Fil: Knobel, Meyer. Universidade de Sao Paulo; Brasil
Fil: Aguiar-Oliveira, Manoel H.. Universidade Federal de Sergipe; Brasil
Fil: Santos, Marcos M.. Universidade Federal de Sergipe; Brasil
Fil: Gomes, Simone A.. Universidade Federal de Sergipe; Brasil
Fil: Oliveira, Carla R.P.. Universidade Federal de Sergipe; Brasil
Fil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
Fil: Medeiros Neto, Geraldo. Universidade de Sao Paulo; Brasil
Materia
THYROID DISEASES
CONGENITAL HYPOTHYROIDISM
THYROGLOBULIN GENE
MUTATION
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/123026
Acceder
id CONICETDig_b621e0be064124316827bcbbcc1e082b
oai_identifier_str oai:ri.conicet.gov.ar:11336/123026
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutationsPardo, VivianeRubio, Ileana G.S.Knobel, MeyerAguiar-Oliveira, Manoel H.Santos, Marcos M.Gomes, Simone A.Oliveira, Carla R.P.Targovnik, Hector ManuelMedeiros Neto, GeraldoTHYROID DISEASESCONGENITAL HYPOTHYROIDISMTHYROGLOBULIN GENEMUTATIONhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Background: Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism. Summary: We found a novel compound heterozygous constellation (IVS30 + 1G>T/A2215D) in a brother and sister and one previously described related mutation (IVS30+1G>T) in their two sibling second degree cousins. The brother with the IVS30 + 1G>T/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism. Conclusions: This study further confirms the association of the IVS30+G>T mutation of the Tg gene with hypothyroidism. Computer analysis predicts that the A2215D mutation, first reported here, should cause structural instability of Tg but when present as a compound heterozygous mutation with IVS30+G>T/A its effect is unclear but is likely to be influenced by iodine intake.Fil: Pardo, Viviane. Universidade de Sao Paulo; BrasilFil: Rubio, Ileana G.S.. Universidade de Sao Paulo; BrasilFil: Knobel, Meyer. Universidade de Sao Paulo; BrasilFil: Aguiar-Oliveira, Manoel H.. Universidade Federal de Sergipe; BrasilFil: Santos, Marcos M.. Universidade Federal de Sergipe; BrasilFil: Gomes, Simone A.. Universidade Federal de Sergipe; BrasilFil: Oliveira, Carla R.P.. Universidade Federal de Sergipe; BrasilFil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaFil: Medeiros Neto, Geraldo. Universidade de Sao Paulo; BrasilMary Ann Liebert2008-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/123026Pardo, Viviane; Rubio, Ileana G.S.; Knobel, Meyer; Aguiar-Oliveira, Manoel H.; Santos, Marcos M.; et al.; Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations; Mary Ann Liebert; Thyroid; 18; 7; 7-2008; 783-7861050-7256CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1089/thy.2007.0321info:eu-repo/semantics/altIdentifier/url/https://www.liebertpub.com/doi/10.1089/thy.2007.0321info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-10T13:15:09Zoai:ri.conicet.gov.ar:11336/123026instacron: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:34982025-09-10 13:15:09.899CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
title Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
spellingShingle Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
Pardo, Viviane
THYROID DISEASES
CONGENITAL HYPOTHYROIDISM
THYROGLOBULIN GENE
MUTATION
title_short Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
title_full Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
title_fullStr Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
title_full_unstemmed Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
title_sort Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
dc.creator.none.fl_str_mv Pardo, Viviane
Rubio, Ileana G.S.
Knobel, Meyer
Aguiar-Oliveira, Manoel H.
Santos, Marcos M.
Gomes, Simone A.
Oliveira, Carla R.P.
Targovnik, Hector Manuel
Medeiros Neto, Geraldo
author Pardo, Viviane
author_facet Pardo, Viviane
Rubio, Ileana G.S.
Knobel, Meyer
Aguiar-Oliveira, Manoel H.
Santos, Marcos M.
Gomes, Simone A.
Oliveira, Carla R.P.
Targovnik, Hector Manuel
Medeiros Neto, Geraldo
author_role author
author2 Rubio, Ileana G.S.
Knobel, Meyer
Aguiar-Oliveira, Manoel H.
Santos, Marcos M.
Gomes, Simone A.
Oliveira, Carla R.P.
Targovnik, Hector Manuel
Medeiros Neto, Geraldo
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv THYROID DISEASES
CONGENITAL HYPOTHYROIDISM
THYROGLOBULIN GENE
MUTATION
topic THYROID DISEASES
CONGENITAL HYPOTHYROIDISM
THYROGLOBULIN GENE
MUTATION
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background: Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism. Summary: We found a novel compound heterozygous constellation (IVS30 + 1G>T/A2215D) in a brother and sister and one previously described related mutation (IVS30+1G>T) in their two sibling second degree cousins. The brother with the IVS30 + 1G>T/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism. Conclusions: This study further confirms the association of the IVS30+G>T mutation of the Tg gene with hypothyroidism. Computer analysis predicts that the A2215D mutation, first reported here, should cause structural instability of Tg but when present as a compound heterozygous mutation with IVS30+G>T/A its effect is unclear but is likely to be influenced by iodine intake.
Fil: Pardo, Viviane. Universidade de Sao Paulo; Brasil
Fil: Rubio, Ileana G.S.. Universidade de Sao Paulo; Brasil
Fil: Knobel, Meyer. Universidade de Sao Paulo; Brasil
Fil: Aguiar-Oliveira, Manoel H.. Universidade Federal de Sergipe; Brasil
Fil: Santos, Marcos M.. Universidade Federal de Sergipe; Brasil
Fil: Gomes, Simone A.. Universidade Federal de Sergipe; Brasil
Fil: Oliveira, Carla R.P.. Universidade Federal de Sergipe; Brasil
Fil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
Fil: Medeiros Neto, Geraldo. Universidade de Sao Paulo; Brasil
description Background: Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism. Summary: We found a novel compound heterozygous constellation (IVS30 + 1G>T/A2215D) in a brother and sister and one previously described related mutation (IVS30+1G>T) in their two sibling second degree cousins. The brother with the IVS30 + 1G>T/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism. Conclusions: This study further confirms the association of the IVS30+G>T mutation of the Tg gene with hypothyroidism. Computer analysis predicts that the A2215D mutation, first reported here, should cause structural instability of Tg but when present as a compound heterozygous mutation with IVS30+G>T/A its effect is unclear but is likely to be influenced by iodine intake.
publishDate 2008
dc.date.none.fl_str_mv 2008-07
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/11336/123026
Pardo, Viviane; Rubio, Ileana G.S.; Knobel, Meyer; Aguiar-Oliveira, Manoel H.; Santos, Marcos M.; et al.; Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations; Mary Ann Liebert; Thyroid; 18; 7; 7-2008; 783-786
1050-7256
CONICET Digital
CONICET
url http://hdl.handle.net/11336/123026
identifier_str_mv Pardo, Viviane; Rubio, Ileana G.S.; Knobel, Meyer; Aguiar-Oliveira, Manoel H.; Santos, Marcos M.; et al.; Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations; Mary Ann Liebert; Thyroid; 18; 7; 7-2008; 783-786
1050-7256
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1089/thy.2007.0321
info:eu-repo/semantics/altIdentifier/url/https://www.liebertpub.com/doi/10.1089/thy.2007.0321
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Mary Ann Liebert
publisher.none.fl_str_mv Mary Ann Liebert
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_ 1842980815276867584
score 12.493442

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