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dc.contributor.author
Laróvere, Laura Elena
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dc.contributor.author
Silvera Ruiz, Silene M.
dc.contributor.author
Arranz, José A.
dc.contributor.author
Dodelson de Kremer, Raquel
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dc.date.available
2020-03-18T15:32:41Z
dc.date.issued
2018-11
dc.identifier.citation
Laróvere, Laura Elena; Silvera Ruiz, Silene M.; Arranz, José A.; Dodelson de Kremer, Raquel; Mutation spectrum and genotype-phenotype correlation in a cohort of Argentine patients with ornithine transcarbamylase deficiency: a single center experience; SAGE Publications; Journal of Inborn Errors of Metabolism and Screening; 6; 11-2018; 1-5
dc.identifier.issn
2326-4594
dc.identifier.uri
http://hdl.handle.net/11336/100028
dc.description.abstract
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with partial deficiency have a late presentation. The symptomatology of heterozygotes depends on the inactivation pattern of X chromosome. Hyperammonemic episodes can cause neurological damage and are potentially fatal. Here, we match clinical, biochemical, and molecular findings with bioinformatics analyses to report genotype–phenotype correlations in 14 Argentine patients with OTCD from 11 unrelated families: 4 hemizygotes with neonatal onset (complete OTC gene deletion, 533C > T, c.540+1G > A, c.697delG); 4 hemizygotes with late onset (c.216+1G > A, c.386G > A, c.622G > A, c.829C > T); and 6 symptomatic heterozygotes (complete OTC gene deletion, c.533C > T, c.452T > G, c.540+1G > A, dupE1-9/delE10). Three of these mutations were previously unreported: c.540+1G > A, c.697delG, and dup1-9/del10. Our data highlight the relevance of combining molecular and bioinformatics analyses for accurate diagnosis and outcome prediction in suspected patients with OTCD and the importance of carrier testing for effective genetic counseling.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
SAGE Publications
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
UREA CYCLE DISORDERS
dc.subject
ORNITHINE TRANSCARBAMYLASE DEFICIENCY
dc.subject
OTC MUTATIONS
dc.subject
HYPERAMMONEMIA
dc.subject.classification
Otras Ciencias Médicas
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dc.subject.classification
Otras Ciencias Médicas
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Mutation spectrum and genotype-phenotype correlation in a cohort of Argentine patients with ornithine transcarbamylase deficiency: a single center experience
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-03-13T18:11:34Z
dc.journal.volume
6
dc.journal.pagination
1-5
dc.journal.pais
Estados Unidos
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dc.description.fil
Fil: Laróvere, Laura Elena. Universidad Nacional de Cordoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Silvera Ruiz, Silene M.. Universidad Nacional de Cordoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
dc.description.fil
Fil: Arranz, José A.. Hospital Vall Dhebron; España
dc.description.fil
Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Cordoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; Argentina
dc.journal.title
Journal of Inborn Errors of Metabolism and Screening
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1177/2326409818813177
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://journals.sagepub.com/doi/10.1177/2326409818813177
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