title: Combination of two different homozygote mutations in Pompe disease.
abstract: Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32-13 T > G homozygote and c.1856G > A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease.
authors.affiliation: Division of Pediatric Cardiology, Kayseri Education and Research Hospital, Kayseri, Turkey.|Department of Pediatrics Division of Pediatric Cardiology, Adana Application and Research Hospital, Baskent University, Adana, Turkey.
authors.forename: Alev
authors.initials: A
authors.lastname: Arslan
authors.affiliation: Division of Pediatric Neurology, Kayseri Education and Research Hospital, Kayseri, Turkey.|Department of Pediatrics, Division of Pediatric Neurology, Fırat University Medical Faculty, Elazig, Turkey.
authors.forename: Hatice Gamze
authors.initials: HG
authors.lastname: Poyrazoğlu
authors.affiliation: Departments of Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.
authors.forename: Aslihan
authors.initials: A
authors.lastname: Kiraz
authors.affiliation: Department of Pediatrics, Kayseri Education and Research Hospital, Kayseri, Turkey.
authors.forename: Alper
authors.initials: A
authors.lastname: Özcan
authors.affiliation: Department of Pediatrics, Kayseri Education and Research Hospital, Kayseri, Turkey.
authors.forename: Halid
authors.initials: H
authors.lastname: Işık
authors.affiliation: Department of Pediatrics, Kayseri Education and Research Hospital, Kayseri, Turkey.
authors.forename: Ayse Betül
authors.initials: AB
authors.lastname: Ergul
authors.affiliation: Department of Pediatric Metabolism and Nutrition, Çukurova University Medical Faculty, Adana, Turkey.
authors.forename: Neslihan Önenli
authors.initials: NÖ
authors.lastname: Mungan
authors.affiliation: Human Genetics, Generations Laboratory, Vienna, Austria.
authors.forename: Berthold
authors.initials: B
authors.lastname: Streubel
authors.affiliation: Human Genetics, Intergen Laboratory, Ankara, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.affiliation: Department of Pediatrics, Kayseri Education and Research Hospital, Kayseri, Turkey.
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Altuner Torun
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D000520:alpha-Glucosidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D004247:DNA; D000520:alpha-Glucosidases
keywords: hypertrophic cardiomyopathy; infantile Pompe disease; novel mutation