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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de Periódicopt_BR
dc.titleClinical Profile And Molecular Characterization Of Galactosemia In Brazil: Identification Of Seven Novel Mutationspt_BR
dc.contributor.authorGarciapt_BR
dc.contributor.authorDF; Camelopt_BR
dc.contributor.authorJS; Molfettapt_BR
dc.contributor.authorGA; Turcatopt_BR
dc.contributor.authorM; Souzapt_BR
dc.contributor.authorCFM; Portapt_BR
dc.contributor.authorG; Steinerpt_BR
dc.contributor.authorCE; Silvapt_BR
dc.contributor.authorWApt_BR
unicamp.author.emailwilsonjr@usp.brpt_BR
dc.subjectGaltpt_BR
dc.subjectInborn Error Of Galactose Metabolismpt_BR
dc.subjectMutation Screeningpt_BR
dc.description.abstractClassical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications ranging from neonatal jaundice and liver failure to late complications, such as motor and reproductive dysfunctions. Galactosemia is also heterogeneous from a molecular standpoint, with hundreds of different mutations described in the GALT gene, some of them specific to certain populations, reflecting consequence of founder effect. Methods: This study reviews the main clinical findings and depicts the spectrum of mutations identified in 19 patients with CG, six with Duarte Galactosemia and one with type 2 Galactosemia in Brazil. Some individuals were diagnosed through expanded newborn screening test, which is not available routinely to all newborns. Results: The main classical Galactosemia mutations reported to date were identified in this study, as well as the Duarte variant and seven novel mutations -c.2 T > C (p.M1T), c.97C > A (p.R33S), c.217C > T (p.P73S), c.328 + 1G > A (IVS3 + 1G > A), c.377 + 4A > C (IVS4 + 4A > C), c.287_289delACA (p.N97del) and c.506A > C (p.Q169P). This was expected, given the high miscegenation of the Brazilian population. Conclusions: This study expands the mutation spectrum in GALT gene and reinforces the importance of early diagnosis and introduction of dietary treatment, what is possible with the introduction of Galactosemia in neonatal screening programs.en
dc.relation.ispartofBMC Medical Geneticspt_BR
dc.publisher.cityLONDONpt_BR
dc.publisherBIOMED CENTRAL LTDpt_BR
dc.date.issued2016pt_BR
dc.identifier.citationBmc Medical Genetics. BIOMED CENTRAL LTD, n. 17, n. 39, p. .pt_BR
dc.language.isoEnglishpt_BR
dc.description.volume17pt_BR
dc.description.issuenumberpt_BR
dc.description.lastpagept_BR
dc.rightsabertopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn1471-2350pt_BR
dc.identifier.wosidWOS:000375686400001pt_BR
dc.identifier.doi10.1186/s12881-016-0300-8pt_BR
dc.identifier.urlhttp://bmcmedgenet.biomedcentral.com.ez88.periodicos.capes.gov.br/articles/10.1186/s12881-016-0300-8pt_BR
dc.description.sponsorshipNational Council for Scientific and Technological Development (CNPq) [146750/2010-1]pt_BR
dc.description.sponsorshipCenter for Integrative System Biology - CISBi-NAP/USP [12.1.25441.01.2]pt_BR
dc.description.sponsorshipCenter for Medical Genomics at the General Hospital of the Ribeirao Preto Medical School, University of Sao Paulo, Brazilpt_BR
dc.description.sponsorship1Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.date.available2016-12-06T18:31:33Z-
dc.date.accessioned2016-12-06T18:31:33Z-
dc.description.provenanceMade available in DSpace on 2016-12-06T18:31:33Z (GMT). No. of bitstreams: 1 000375686400001.pdf: 929191 bytes, checksum: 01cae40677d2a5cba111a76f9c4fcdee (MD5) Previous issue date: 2016en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/320321-
dc.description.conferencelocationpt_BR
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