A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
J. inborn errors metab. screen
; 9: e20200029, 2021. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1287008
Biblioteca responsável:
BR1.1
ABSTRACT
Abstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by the GNPTG gene. Pathogenic variants identified in the GNPTAB gene cause the diseases Mucolipidosis II and III alpha/beta, which are severe and characterized by an overflow of lysosomal hydrolases into the extracellular environment, and their absence in lysosomal compartments causes an accumulation of non-degraded macromolecules. Methodology:
a retrospective study that included 32 unrelated Brazilian patients with a clinical and genetic diagnosis of Mucolipidosis II/III alpha/beta. The regional frequency of the altered alleles was determined.Results:
The patients were from all regions of Brazil. The most prevalent variants were c.3503_3504del, associated with the severe form of the disease, and c.1208T>C, associated with the milder form. Variant c.3503_3504del is the most frequently found in the Midwest, Northeast, and Southeast regions of Brazil. In the South, 42.8% of the alleles present the c.1196C>T variant.Conclusions:
From the perspective of all patients diagnosed with Mucolipidosis II/III in Brazil, it is possible to conclude that different regions present allelic frequencies of specific pathogenic variants, which can be explained by the occurrence of a founding effect or high inbreeding rates.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Fatores de risco
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2021
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Hospital de Clínicas de Porto Alegre/BR
/
Universidade Estadual de Campinas/BR
/
Universidade Federal de Mato Grosso do Sul/BR
/
Universidade Federal de Santa Catarina/BR
/
Universidade Federal do Pará/BR