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dc.contributor.author
Belforte, Fiorella Sabrina
dc.contributor.author
Olcese, María Cecilia
dc.contributor.author
Siffo, Sofía
dc.contributor.author
Papendieck, Patricia
dc.contributor.author
Enacan, Rosa E.
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Gruñeiro-Papendieck, Laura
dc.contributor.author
Chiesa, Ana Elena
dc.contributor.author
Targovnik, Hector Manuel
dc.contributor.author
Rivolta, Carina Marcela
dc.date.available
2018-07-03T20:54:10Z
dc.date.issued
2016-11
dc.identifier.citation
Belforte, Fiorella Sabrina; Olcese, María Cecilia; Siffo, Sofía; Papendieck, Patricia; Enacan, Rosa E.; et al.; Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review; Austing Publishing Group; Austin Journal of Allergy; 2; 2; 11-2016; 69-78
dc.identifier.issn
2378-6655
dc.identifier.uri
http://hdl.handle.net/11336/51111
dc.description.abstract
Purpose: DUOX2 deficiency is a transient or permanent disorder that results in thyroid dyshormonogenesis. The purpose of this study was to identify and characterize new mutations in the DUOX2 gene in an attempt to increase the understanding of genotype-phenotype correlation for this disorder. The current study summarizes also the spectrum of DUOX2 variations reported to date in the literature. Methods: Two siblings from an nonconsanguineous family with clinical and biochemical criteria suggestive of transient CH were studied. Single-Strand Conformation Polymorphism (SSCP) analysis and sequencing of DNA of TPO and DUOX2 genes were performed. Results: Sequencing analysis of DUOX2 gene revealed two inactivating mutations, a novel c.1057_1058delTT mutation (p.F353Pfs*36, father’s mutation) and a possible previously reported c.1275T>G mutation (p.Y425X, mother’s mutation). Consequently, the two siblings carry a compound heterozygous for p.F353Pfs*36/ p.Y425X mutations, whereas the healthy brother is heterozygous for the c.1275T>G mutation and does not carry the c.1057_1058delTT mutation. Up to date, hundred twenty pathogenic variations and functional single nucleotide polymorphisms in the human DUOX2 gene have been reported associated with transient or permanent CH: 78 missense mutations, 11 nonsense mutations, 26 deletions and insertions, and 6 splice site mutations. The transient or persistent variability of the CH phenotype is not directly related to the number of mutant DUOX2 alleles. Pathogenic DUOX2 mutations were identified together with likely pathogenic variants in the TSHR, DUOXA2, Thyroid peroxidase, Thyroglobulin and SLC26A4 genes. Conclusion: In the present study, we have identified a novel p.F353Pfs*36 mutation in peroxidase like domain of DUOX2 and we have confirmed that total loss of DUOX2 activity by biallelic premature termination codon causes transient CH phenotype.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Austing Publishing Group
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
Congenital Hypothyroidism
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Duox Gene
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Mutation
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Compound Heterozygous Mutations
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Premature Stop Codon
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Inmunología
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Medicina Básica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-06-05T20:12:10Z
dc.journal.volume
2
dc.journal.number
2
dc.journal.pagination
69-78
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Nueva Jersey
dc.description.fil
Fil: Belforte, Fiorella Sabrina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
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Fil: Olcese, María Cecilia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
dc.description.fil
Fil: Siffo, Sofía. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
dc.description.fil
Fil: Papendieck, Patricia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
dc.description.fil
Fil: Enacan, Rosa E.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
dc.description.fil
Fil: Gruñeiro-Papendieck, Laura. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
dc.description.fil
Fil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
dc.description.fil
Fil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
dc.description.fil
Fil: Rivolta, Carina Marcela. 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
dc.journal.title
Austin Journal of Allergy
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://austinpublishinggroup.com/allergy/all-issues.php
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://austinpublishinggroup.com/thyroid-research/download.php?file=fulltext/thyroids-v2-id1018.pdf


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