caa a22 4500 467933553 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0316-x doi (NATIONALLICENCE)springer-10.1007/s10545-006-0316-x Homozygosity for the double D409H+H255Q allele in type II Gaucher disease [Elektronische Daten] [Helen Michelakakis, Marina Moraitou, Evagelia Dimitriou, Raul Santamaria, Gessami Sanchez, Laura Gort, Amparo Chabas, Daniel Grinberg, Maria Dassopoulou, Spyros Fotopoulos, Lluisa Vilageliu] Summary: Homozygosity for D409H has been associated with a unique type III subtype of the disease with a phenotype dominated by severe cardiovascular involvement, whereas neurological findings, if present, are restricted to oculomotor apraxia and features such as visceromegaly are either minimal or absent. Using PCR amplification followed by restriction enzyme analysis, 3 patients (1 Greek, 2 Albanians) were IDentified with the D409H/D409H genotype. All shared a very severe early-onset neurological phenotype that classified them as type II. Amplification and sequencing of the full coding region of the GBA gene revealed that all three patients were homozygous not only for D409H but also for H255Q. Both mutations were present on the same allele, as shown by analysis of the parental DNA. The double D409H+H255Q allele was found in heterozygosity in Greek, Bulgarian and Argentinian patients but was not IDentified in any Spanish patients carrying the D409H mutation. SSIEM and Springer, 2006 Michelakakis Helen Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece aut Moraitou Marina Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece aut Dimitriou Evagelia Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece aut Santamaria Raul Department de Genetica, Facultat de Biologia, Universitat de Barcelona, Spain aut Sanchez Gessami Department de Genetica, Facultat de Biologia, Universitat de Barcelona, Spain aut Gort Laura Institut de Bioquimica Clinica, Corporacio Sanitaria Clinic, Barcelona, Spain aut Chabas Amparo Institut de Bioquimica Clinica, Corporacio Sanitaria Clinic, Barcelona, Spain aut Grinberg Daniel Department de Genetica, Facultat de Biologia, Universitat de Barcelona, Spain aut Dassopoulou Maria NICU, "Alexandra” Hospital Athens, and "Ag. Sophia” Children's Hospital, Athens, Greece aut Fotopoulos Spyros Institut de Bioquimica Clinica, Corporacio Sanitaria Clinic, Barcelona, Spain aut Vilageliu Lluisa Department de Genetica, Facultat de Biologia, Universitat de Barcelona, Spain aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 591-591 0141-8955 29:4<591 2006 29 10545 https://doi.org/10.1007/s10545-006-0316-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0316-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Michelakakis Helen Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece aut NATIONALLICENCE 700 1- Moraitou Marina Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece aut NATIONALLICENCE 700 1- Dimitriou Evagelia Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece aut NATIONALLICENCE 700 1- Santamaria Raul Department de Genetica, Facultat de Biologia, Universitat de Barcelona, Spain aut NATIONALLICENCE 700 1- Sanchez Gessami Department de Genetica, Facultat de Biologia, Universitat de Barcelona, Spain aut NATIONALLICENCE 700 1- Gort Laura Institut de Bioquimica Clinica, Corporacio Sanitaria Clinic, Barcelona, Spain aut NATIONALLICENCE 700 1- Chabas Amparo Institut de Bioquimica Clinica, Corporacio Sanitaria Clinic, Barcelona, Spain aut NATIONALLICENCE 700 1- Grinberg Daniel Department de Genetica, Facultat de Biologia, Universitat de Barcelona, Spain aut NATIONALLICENCE 700 1- Dassopoulou Maria NICU, "Alexandra” Hospital Athens, and "Ag. Sophia” Children's Hospital, Athens, Greece aut NATIONALLICENCE 700 1- Fotopoulos Spyros Institut de Bioquimica Clinica, Corporacio Sanitaria Clinic, Barcelona, Spain aut NATIONALLICENCE 700 1- Vilageliu Lluisa Department de Genetica, Facultat de Biologia, Universitat de Barcelona, Spain aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 591-591 0141-8955 29:4<591 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer