caa a22 4500 467933464 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0280-5 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0280-5 Seven cases of Pompe disease from Greece [Elektronische Daten] [M. Kroos, P. Manta, I. Mavridou, F. Muntoni, D. Halley, R. Helm, D. Zaifeiriou, A. Ploeg, A. Reuser, H. Michelakakis] Summary: We present seven cases of Pompe disease (McKusick 232300; glycogen storage disease type II; acid maltase deficiency) from Greece. The onset of symptoms varied from early childhood to late adulthood, and the patients had quite variable duration of disease. All but one of them had muscle weakness and all had mildly to highly elevated serum creatine kinase. The diagnosis in all cases was confirmed by the finding of acid α-glucosidase (EC 3.2.1.3/20) deficiency in cultured skin fibroblasts. Thirteen mutant alleles were identified and nine different pathogenic mutations were encountered. Four were new: c.2071_2072insAGCCG leads to frameshift and total loss of function; c.1856G > A (p.Ser619Asn) leads to 90-95% loss of function; and the splice-site mutations c.1552−3C > G and c.2331+4A > G reduce the number of correct splicing events by more than 90%. The splice-site mutation c.-32-13T > G (IVS1-13T > G) was encountered four times and seems equally common among Greek and other caucasians. The other mutations: c.925G > A (p.Gly309Arg), c.[307T > G; 271G > A] (p.Cys103Gly; Asp91Asn), c.271del and c.1655T > C (p.Leu552Pro) have been reported earlier. Our study highlights the heterogeneity of Pompe disease in Greece and provides tools for diagnosis and carrier detection. SSIEM and Springer, 2006 Kroos M. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands aut Manta P. Department of Neurology, University of Athens, Greece aut Mavridou I. Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece aut Muntoni F. Department of Paediatric Neurology, Hammersmith Hospital London, UK aut Halley D. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands aut Helm R. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands aut Zaifeiriou D. Department of Pediatrics, University of Thessaloniki, Greece aut Ploeg A. Department of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands aut Reuser A. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands aut Michelakakis H. Department of Neurology, University of Athens, Greece aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 556-563 0141-8955 29:4<556 2006 29 10545 https://doi.org/10.1007/s10545-006-0280-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0280-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kroos M. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Manta P. Department of Neurology, University of Athens, Greece aut NATIONALLICENCE 700 1- Mavridou I. Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece aut NATIONALLICENCE 700 1- Muntoni F. Department of Paediatric Neurology, Hammersmith Hospital London, UK aut NATIONALLICENCE 700 1- Halley D. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Helm R. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Zaifeiriou D. Department of Pediatrics, University of Thessaloniki, Greece aut NATIONALLICENCE 700 1- Ploeg A. Department of Metabolic Diseases and Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Reuser A. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Michelakakis H. Department of Neurology, University of Athens, Greece aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 556-563 0141-8955 29:4<556 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer