A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.
Acta Myol
; 32(2): 95-9, 2013 Oct.
Article
em En
| MEDLINE
| ID: mdl-24399866
Glycogen-storage disease type II, also named Pompe disease, is caused by the deficiency of the enzyme acid alpha-glucosidase, which originates lysosomal glycogen accumulation leading to progressive neuromuscular damage. Early-onset Pompe disease shows a debilitating and frequently fulminating course. To date, more than 300 mutations have been described; the majority of them are unique to each affected individual. Most early-onset phenotypes are associated with frameshift mutations leading to a truncated alpha-glucosidase protein with loss of function. Founder effects are responsible from many cases from few highprevalence world regions. Herein we described two apparently unrelated cases affected with classical early-onset Pompe disease, both pertaining to a small region from Central Mexico (the State of San Luis Potosí), the same novel homozygous frameshift mutation at gene GAA (c.1987delC) was demonstrated in both cases. This GAA gene deletion implies a change of glutamine to serine at codon 663, and a new reading frame that ends after 33 base pairs, which leads to the translation of a truncated protein. This report contributes to widen the knowledge on the effect of pathogenic mutations in Pompe disease. Here we postulate the existence of a founder effect.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo II
/
Alfa-Glucosidases
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Humans
/
Infant
/
Male
País/Região como assunto:
Mexico
Idioma:
En
Revista:
Acta Myol
Assunto da revista:
CARDIOLOGIA
/
FISIOLOGIA
Ano de publicação:
2013
Tipo de documento:
Article
País de publicação:
Itália