Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease
Makaleler > Tam Makale · 2014
Yazarlar: Ayça AYKUT, HÜSEYİN ONAY, M KOSE, Canda Erbas, Emin KARACA, Mahmut ÇOKER, Feriştah Ferda ÖZKINAY
Journal of Pediatric Endocrinology and Metabolism, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2014, cilt 0, ss 1265-7
Özet
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder (GSD) caused by acid α-glucosidase (GAA) deficiency. Pompe disease has a broad genotypic and phenotypic spectrum. The infantile-onset form is the most severe form and presents with hypotonia and cardiomyopathy in early infancy. The probands who died were found to have GSD type II based on clinical and biochemical findings. We report two families with Pompe disease in whom the parents' molecular analysis revealed two novel mutations: c.2045A>G (p.Q682R) and c.763C>T (p.Q255X).