caa a22 4500 475786866 CHVBK 20180406123700.0 cr unu---uuuuu 170329e20000401xx s 000 0 eng 10.1007/s004310051281 doi (NATIONALLICENCE)springer-10.1007/s004310051281 Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart [Elektronische Daten] [Jan Peter Rake, Annelies M. ten Berge, Gepke Visser, Edwin Verlind, Klary E. Niezen-Koning, Charles H. C. M. Buys, G. Peter A. Smit, Hans Scheffer] We studied the glucose-6-phosphatase (G6Pase) gene of 30 unrelated glycogen storage disease type Ia (GSD Ia) patients using single strand conformational polymorphism (SSCP) prior to automated sequencing of exons revealing an aberrant SSCP pattern. In all patients we could identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure. A total of 14 different mutations were identified. R83C (16/60), 158delC (12/60), Q347X (7/60), R170X (6/60) and ΔF327 (4/60) were found most frequently. Nine other mutations accounted for the other 15 mutant alleles. Two DNA-based prenatal diagnoses were performed successfully. At present, 56 mutations in the G6Pase gene have been reported in 300 unrelated GSD Ia patients and an overview of these mutations is presented. Evidence for a clear genotype-phenotype correlation could be established neither from our data nor from those in the literature. With increased knowledge about the genetic basis of GSD Ia and GSD Ib and the high detection rate of mutations, it is our opinion that the diagnoses GSD Ia and GSD Ib can usually be based on clinical and biochemical abnormalities combined with mutation analysis instead of enzyme assays in liver tissue obtained by biopsy. A newly developed flowchart for the diagnosis of GSD I is presented. Conclusion Increased knowledge of the genetic basis of glycogen storage disease type I provides a DNA-based diagnosis, prenatal DNA-based diagnosis in chorionic villus samples and carrier detection. Springer-Verlag Berlin Heidelberg, 2000 Key words Glycogen storage disease type Ia nationallicence Glucose-6-phosphatase nationallicence Mutations nationallicence Diagnosis nationallicence Prenatal diagnosis nationallicence Rake Jan Peter Department of Metabolic Diseases, Beatrix Children's Hospital, University Hospital Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands e-mail: J.P.Rake@bkk.azg.nl Tel.: +31-50-3612478; Fax: +31-50-3614235, NL aut ten Berge Annelies M. Department of Medical Genetics, University of Groningen, The Netherlands, NL aut Visser Gepke Department of Metabolic Diseases, Beatrix Children's Hospital, University Hospital Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands e-mail: J.P.Rake@bkk.azg.nl Tel.: +31-50-3612478; Fax: +31-50-3614235, NL aut Verlind Edwin Department of Medical Genetics, University of Groningen, The Netherlands, NL aut Niezen-Koning Klary E. Department of Metabolic Diseases, Beatrix Children's Hospital, University Hospital Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands e-mail: J.P.Rake@bkk.azg.nl Tel.: +31-50-3612478; Fax: +31-50-3614235, NL aut Buys Charles H. C. M. Department of Medical Genetics, University of Groningen, The Netherlands, NL aut Smit G. Peter A. Department of Metabolic Diseases, Beatrix Children's Hospital, University Hospital Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands e-mail: J.P.Rake@bkk.azg.nl Tel.: +31-50-3612478; Fax: +31-50-3614235, NL aut Scheffer Hans Department of Medical Genetics, University of Groningen, The Netherlands, NL aut https://doi.org/10.1007/s004310051281 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310051281 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rake Jan Peter Department of Metabolic Diseases, Beatrix Children's Hospital, University Hospital Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands e-mail: J.P.Rake@bkk.azg.nl Tel.: +31-50-3612478; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- ten Berge Annelies M. Department of Medical Genetics, University of Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Visser Gepke Department of Metabolic Diseases, Beatrix Children's Hospital, University Hospital Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands e-mail: J.P.Rake@bkk.azg.nl Tel.: +31-50-3612478; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Verlind Edwin Department of Medical Genetics, University of Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Niezen-Koning Klary E. Department of Metabolic Diseases, Beatrix Children's Hospital, University Hospital Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands e-mail: J.P.Rake@bkk.azg.nl Tel.: +31-50-3612478; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Buys Charles H. C. M. Department of Medical Genetics, University of Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Smit G. Peter A. Department of Metabolic Diseases, Beatrix Children's Hospital, University Hospital Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands e-mail: J.P.Rake@bkk.azg.nl Tel.: +31-50-3612478; Fax: +31-50-3614235, NL aut NATIONALLICENCE 700 1- Scheffer Hans Department of Medical Genetics, University of Groningen, The Netherlands, NL aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer