title: A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).
abstract: Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with malfunction of the acid α-glucosidase enzyme (GAA; EC.3.2.1.3) leading to intracellular aggregations of glycogenin muscles. The infantile-onset type is the most life-threatening form of this disease, in which most of patients suffer from cardiomyopathy and hypotonia in early infancy. In this study, a typical case of Pompe disease was reported in an Iranian patient using molecular analysis of the GAA gene. Our results revealed a new c.1824_1828dupATACG mutation in exon 13 of the GAA gene. In conclusion, with the finding of this novel mutation, the genotypic spectrum of Iranian patients with Pompe disease has been extended, facilitating the definition of disease-related mutations.
authors: Department of Medical Genetics, Special Medical Center, Tehran, Iran.
authors: Omid
authors: O
authors: Aryani
authors: Masoumeh Dehghan
authors: MD
authors: Manshadi
authors: Mahdi
authors: M
authors: Tondar
authors: Elham
authors: E
authors: Khalili
authors: Behnam
authors: B
authors: Kamalidehghan
authors: Fatemeh
authors: F
authors: Ahmadipour
authors: Somayeh
authors: S
authors: Fani
authors: Massoud
authors: M
authors: Houshmand
mesh_terms: D009202:Cardiomyopathies / Q000235:genetics; D003241:Consanguinity; D005091:Exons; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D060005:Genotyping Techniques; D005087:Glucan 1,4-alpha-Glucosidase / Q000235:genetics / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D009154:Mutation; D009844:Oligosaccharides / Q000652:urine; D017422:Sequence Analysis, DNA; D000520:alpha-Glucosidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D009844:Oligosaccharides; C033620:glucose tetrasaccharide; D006003:Glycogen; C509951:GAA protein, human; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase