Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

Autores
Targovnik, Hector Manuel; Esperante, Sebastian; Rivolta, Carina Marcela
Año de publicación
2010
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high 131I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T4 and low, normal or high serum T3. Mutations in TG gene have been also reported associated with endemic and euthyroid nonendemic simple goiter. TG gene defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for mutations. Up to now, 50 mutations have been identified and characterized in the human TG: 23 missense mutations, 10 nonsense mutations, 5 single and 1 large nucleotide deletions, 1 single nucleotide insertion and 10 splice site mutations. The functional consequences of this mutations could be structural changes in the protein molecule that alter the normal protein folding, assembly and biosynthesis of thyroid hormones, leading to a marked reduction in the ability to export the protein from the endoplasmic reticulum.
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. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina
Fil: Esperante, Sebastian. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina
Fil: Rivolta, Carina Marcela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. 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
Materia
CONGENITAL GOITER
HYPOTHYROIDISM
MUTATION
THYROGLOBULIN DEFECT
THYROGLOBULIN GENE
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:11336/97326
Acceder
id CONICETDig_2c78e18cca10d46b8605b362beb9e291
oai_identifier_str oai:ri.conicet.gov.ar:11336/97326
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutationsTargovnik, Hector ManuelEsperante, SebastianRivolta, Carina MarcelaCONGENITAL GOITERHYPOTHYROIDISMMUTATIONTHYROGLOBULIN DEFECTTHYROGLOBULIN GENEhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high 131I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T4 and low, normal or high serum T3. Mutations in TG gene have been also reported associated with endemic and euthyroid nonendemic simple goiter. TG gene defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for mutations. Up to now, 50 mutations have been identified and characterized in the human TG: 23 missense mutations, 10 nonsense mutations, 5 single and 1 large nucleotide deletions, 1 single nucleotide insertion and 10 splice site mutations. The functional consequences of this mutations could be structural changes in the protein molecule that alter the normal protein folding, assembly and biosynthesis of thyroid hormones, leading to a marked reduction in the ability to export the protein from the endoplasmic reticulum.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. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; ArgentinaFil: Esperante, Sebastian. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: Rivolta, Carina Marcela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. 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; ArgentinaElsevier Ireland2010-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/97326Targovnik, Hector Manuel; Esperante, Sebastian; Rivolta, Carina Marcela; Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations; Elsevier Ireland; Molecular and Cellular Endocrinology; 322; 1-2; 6-2010; 44-550303-7207CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S0303720710000110info:eu-repo/semantics/altIdentifier/doi/10.1016/j.mce.2010.01.009info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:01:46Zoai:ri.conicet.gov.ar:11336/97326instacron: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 10:01:46.425CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
title Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
spellingShingle Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
Targovnik, Hector Manuel
CONGENITAL GOITER
HYPOTHYROIDISM
MUTATION
THYROGLOBULIN DEFECT
THYROGLOBULIN GENE
title_short Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
title_full Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
title_fullStr Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
title_full_unstemmed Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
title_sort Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
dc.creator.none.fl_str_mv Targovnik, Hector Manuel
Esperante, Sebastian
Rivolta, Carina Marcela
author Targovnik, Hector Manuel
author_facet Targovnik, Hector Manuel
Esperante, Sebastian
Rivolta, Carina Marcela
author_role author
author2 Esperante, Sebastian
Rivolta, Carina Marcela
author2_role author
author
dc.subject.none.fl_str_mv CONGENITAL GOITER
HYPOTHYROIDISM
MUTATION
THYROGLOBULIN DEFECT
THYROGLOBULIN GENE
topic CONGENITAL GOITER
HYPOTHYROIDISM
MUTATION
THYROGLOBULIN DEFECT
THYROGLOBULIN GENE
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high 131I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T4 and low, normal or high serum T3. Mutations in TG gene have been also reported associated with endemic and euthyroid nonendemic simple goiter. TG gene defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for mutations. Up to now, 50 mutations have been identified and characterized in the human TG: 23 missense mutations, 10 nonsense mutations, 5 single and 1 large nucleotide deletions, 1 single nucleotide insertion and 10 splice site mutations. The functional consequences of this mutations could be structural changes in the protein molecule that alter the normal protein folding, assembly and biosynthesis of thyroid hormones, leading to a marked reduction in the ability to export the protein from the endoplasmic reticulum.
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. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina
Fil: Esperante, Sebastian. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina
Fil: Rivolta, Carina Marcela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. 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
description Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high 131I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T4 and low, normal or high serum T3. Mutations in TG gene have been also reported associated with endemic and euthyroid nonendemic simple goiter. TG gene defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for mutations. Up to now, 50 mutations have been identified and characterized in the human TG: 23 missense mutations, 10 nonsense mutations, 5 single and 1 large nucleotide deletions, 1 single nucleotide insertion and 10 splice site mutations. The functional consequences of this mutations could be structural changes in the protein molecule that alter the normal protein folding, assembly and biosynthesis of thyroid hormones, leading to a marked reduction in the ability to export the protein from the endoplasmic reticulum.
publishDate 2010
dc.date.none.fl_str_mv 2010-06
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/11336/97326
Targovnik, Hector Manuel; Esperante, Sebastian; Rivolta, Carina Marcela; Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations; Elsevier Ireland; Molecular and Cellular Endocrinology; 322; 1-2; 6-2010; 44-55
0303-7207
CONICET Digital
CONICET
url http://hdl.handle.net/11336/97326
identifier_str_mv Targovnik, Hector Manuel; Esperante, Sebastian; Rivolta, Carina Marcela; Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations; Elsevier Ireland; Molecular and Cellular Endocrinology; 322; 1-2; 6-2010; 44-55
0303-7207
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://www.sciencedirect.com/science/article/pii/S0303720710000110
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.mce.2010.01.009
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/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier Ireland
publisher.none.fl_str_mv Elsevier Ireland
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_ 1842269716484194304
score 13.13397

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