Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

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art_GARCIA_Clinical_profile_and_molecular_characterization_of_Galactosemia_in_2016.PDF (907.41 KB)
Citações na Scopus
12
Tipo de produção
article
Data de publicação
2016
Editora
BIOMED CENTRAL LTD
DOI
Indexadores
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Autores
GARCIA, Daniel F.
CAMELO JR., Jose S.
MOLFETTA, Greice A.
TURCATO, Marlene
SOUZA, Carolina F. M.
STEINER, Carlos E.
SILVA JR., Wilson A.
Autor de Grupo de pesquisa
Editores
Coordenadores
Organizadores
Citação
BMC MEDICAL GENETICS, v.17, article ID 39, 8p, 2016
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Background: Classical 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.
Palavras-chave
GALT, Inborn error of galactose metabolism, Mutation screening
URI
https://observatorio.fm.usp.br/handle/OPI/14505
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Coleções
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/36