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Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.
Amiñoso, Cinthia; Vallespin, Elena; Fernández, Luís; Arrabal, Luisa F; Desviat, Lourdes R; Pérez, Belen; Santos, Fernando; Solera, Jesús.
Afiliação
  • Amiñoso C; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, and Departamento de Biología Molecular, Universidad Autónoma de Madrid, Madrid, Spain.
Gene ; 519(1): 169-72, 2013 Apr 25.
Article em En | MEDLINE | ID: mdl-23402890
Pompe disease is an uncommon autosomal recessive glycogen storage disorder caused by deficiency of acid α-glucosidase. Classic infantile form triggers severe cardiomyopathy, hypotonia, and respiratory failure, leading to death within the first two years of life. The majority of patients with Pompe disease have been reported to have point mutations in the GAA gene. We report the first complex deletion-insertion encompassing the complete structure of GAA gene and a large fragment of the gene CCDC40 in a patient with very severe form of Pompe disease. Sequencing analysis of breakpoints allowed us to determine the potential implication of an Alu repeat in the pathogenic mechanism. We suggest that molecular strategy of Pompe disease should include systematic analysis of large rearrangements.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Deleção de Genes / Elementos Alu / Alfa-Glucosidases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Newborn País como assunto: Europa Idioma: En Ano de publicação: 2013 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Deleção de Genes / Elementos Alu / Alfa-Glucosidases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Newborn País como assunto: Europa Idioma: En Ano de publicação: 2013 Tipo de documento: Article