caa a22 4500 39757472X CHVBK 20180308164852.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.649 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.649 X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2, the Gene Encoding the Liver α Subunit of Phosphorylase Kinase [Elektronische Daten] [Jan Hendrickx, Erna Dams, Paul Coucke, Philip Lee, John Fernandes, Patrick J. Willems] X-linked liver glycogenosis type II (XLG II) is a recently described X-linked liver glycogen storage disease, mainly characterized by enlarged liver and growth retardation. These clinical symptoms are very similar to those of XLG I. In contrast to XLG I patients, however, XLG II patients do not show an in vitro enzymatic deficiency of phosphorylase kinase (PHK). Recently, mutations were identified in the gene encoding the liver α subunit of PHK (PHKA2) in XLG I patients. We have now studied the PHKA2 gene of four unrelated XLG II patients and identified four different mutations in the open reading frame, including a deletion of three nucleotides, an insertion of six nucleotides and two missense mutations. These results indicate that XLG II is due to mutations in PHKA2. In contrast to XLG I, XLG II is caused by mutations that lead to minor structural abnormalities in the primary structure of the liver α subunit of PHK. These mutations are found in a conserved RXX(X)T motif, resembling known phosphorylation sites that might be involved in the regulation of PHK. These findings might explain why the in vitro PHK enzymatic activity is not deficient in XLG II, whereas it is in XLG I. © 1996 Oxford University Press Hendrickx Jan Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium aut Dams Erna Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium aut Coucke Paul Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium aut Lee Philip Department of Child Health, St George's Hospital Medical School, Cranmer Terrace, London, UK aut Fernandes John Department of Pediatrics, University of Groningen, Oostersingel 59, Groningen, The Netherlands aut Willems Patrick J. Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 649-652 0964-6906 5:5<649 1996 5 hmg https://doi.org/10.1093/hmg/5.5.649 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.649 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hendrickx Jan Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium aut NATIONALLICENCE 700 1- Dams Erna Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium aut NATIONALLICENCE 700 1- Coucke Paul Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium aut NATIONALLICENCE 700 1- Lee Philip Department of Child Health, St George's Hospital Medical School, Cranmer Terrace, London, UK aut NATIONALLICENCE 700 1- Fernandes John Department of Pediatrics, University of Groningen, Oostersingel 59, Groningen, The Netherlands aut NATIONALLICENCE 700 1- Willems Patrick J. Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Antwerp, Belgium aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 649-652 0964-6906 5:5<649 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford