Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date,...
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| Published in | International journal of molecular sciences Vol. 19; no. 12; p. 3726 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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MDPI AG
23.11.2018
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| Abstract | Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder. The accumulation of globotriaosylsphingosine (LysoGb3) was determined in blood of positives. Exonic mutations in the GLA gene were detected in 471 patients (207 Probands and 264 relatives): 71.6% of mutations were associated with the classic phenotype, 19.8% were associated with the late-onset phenotype, and 8.6% of genetic variants were of unknown significance (GVUS). The accumulation of LysoGb3 was found in all male patients with a mutation responsible for classic or late-onset FD. LysoGb3 levels were consistent with the type of mutations and the symptomatology of patients. α-Gal A activity in these patients is absent or dramatically reduced. In recent years, confusion about the pathogenicity of some mutations led to an association between non-causative mutations and FD. Our study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, α-Gal A assay, and blood accumulation of LysoGB3. In our experience, LysoGB3 can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease. |
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| AbstractList | Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder. The accumulation of globotriaosylsphingosine (LysoGb3) was determined in blood of positives. Exonic mutations in the GLA gene were detected in 471 patients (207 Probands and 264 relatives): 71.6% of mutations were associated with the classic phenotype, 19.8% were associated with the late-onset phenotype, and 8.6% of genetic variants were of unknown significance (GVUS). The accumulation of LysoGb3 was found in all male patients with a mutation responsible for classic or late-onset FD. LysoGb3 levels were consistent with the type of mutations and the symptomatology of patients. α-Gal A activity in these patients is absent or dramatically reduced. In recent years, confusion about the pathogenicity of some mutations led to an association between non-causative mutations and FD. Our study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, α-Gal A assay, and blood accumulation of LysoGB3. In our experience, LysoGB3 can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease.Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder. The accumulation of globotriaosylsphingosine (LysoGb3) was determined in blood of positives. Exonic mutations in the GLA gene were detected in 471 patients (207 Probands and 264 relatives): 71.6% of mutations were associated with the classic phenotype, 19.8% were associated with the late-onset phenotype, and 8.6% of genetic variants were of unknown significance (GVUS). The accumulation of LysoGb3 was found in all male patients with a mutation responsible for classic or late-onset FD. LysoGb3 levels were consistent with the type of mutations and the symptomatology of patients. α-Gal A activity in these patients is absent or dramatically reduced. In recent years, confusion about the pathogenicity of some mutations led to an association between non-causative mutations and FD. Our study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, α-Gal A assay, and blood accumulation of LysoGB3. In our experience, LysoGB3 can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease. Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder. The accumulation of globotriaosylsphingosine (LysoGb3) was determined in blood of positives. Exonic mutations in the GLA gene were detected in 471 patients (207 Probands and 264 relatives): 71.6% of mutations were associated with the classic phenotype, 19.8% were associated with the late-onset phenotype, and 8.6% of genetic variants were of unknown significance (GVUS). The accumulation of LysoGb3 was found in all male patients with a mutation responsible for classic or late-onset FD. LysoGb3 levels were consistent with the type of mutations and the symptomatology of patients. α-Gal A activity in these patients is absent or dramatically reduced. In recent years, confusion about the pathogenicity of some mutations led to an association between non-causative mutations and FD. Our study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, α-Gal A assay, and blood accumulation of LysoGB3. In our experience, LysoGB3 can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease. |
| Author | Caserta, Marina Francofonte, Daniele Duro, Giovanni Zoccali, Carmine Giordano, Antonello Losi, Maria Angela Postorino, Maurizio Sciarrino, Serafina Zizzo, Carmela Pieruzzi, Federico Amico, Luisa Burlina, Alessandro Rodolico, Margherita Stefania Frustaci, Andrea Burlina, Alberto Palladino, Giuseppe Zachara, Elisabetta Testa, Alessandra Ferri, Claudio Battaglia, Yuri Riccio, Eleonora Monte, Ines Tenuta, Maurizio Cammarata, Giuseppe Mignani, Renzo Lombardi, Marco Alessandro, Riccardo Polo, Giulia Scalia, Simone Colomba, Paolo Pieroni, Maurizio Castana, Cinzia Pisani, Antonio Autore, Camillo Spada, Marco Masarone, Daniele Limongelli, Giuseppe Feriozzi, Sandro Chimenti, Cristina Napoletano, Rosa Oliveri, Roberta |
| AuthorAffiliation | 20 Department of Advanced Medical Sciences, Federico II University of Naples, 80131 Naples, Italy; losi@unina.it 15 Cardiology Department Echocardiography Laboratory, Department of Cardiothoracic and Vascular, Policlinico Vittorio Emanuele, Catania University, 95124 Catania, Italy; inemonte@unict.it 2 Neurological Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy; alessandro.burlina@aulss7.veneto.it 24 Nephrology Unit, Grande Ospedale Metropolitano Reggio Calabria, 89124 Reggio Calabria, Italy; maurizio@postorino.eu 1 Institute of Biomedicine and Molecular Immunology “A. Monroy”, National Research Council, 90146 Palermo, Italy; giovanni.duro@ibim.cnr.it (G.D.); carmela.zizzo@ibim.cnr.it (C.Z.); giuseppe.cammarata@ibim.cnr.it (G.C.); simone.scalia@hotmail.it (S.S.); robertao.890@gmail.com (R.O.); sciarrino@ibim.cnr.it (S.S.); daniele.francofonte@ibim.cnr.it (D.F.); riccardo.alessandro@unipa.it (R.A.) 18 Department of Specialized Medicine, Division of Nephrology and Dialysis, St. An |
| AuthorAffiliation_xml | – name: 1 Institute of Biomedicine and Molecular Immunology “A. Monroy”, National Research Council, 90146 Palermo, Italy; giovanni.duro@ibim.cnr.it (G.D.); carmela.zizzo@ibim.cnr.it (C.Z.); giuseppe.cammarata@ibim.cnr.it (G.C.); simone.scalia@hotmail.it (S.S.); robertao.890@gmail.com (R.O.); sciarrino@ibim.cnr.it (S.S.); daniele.francofonte@ibim.cnr.it (D.F.); riccardo.alessandro@unipa.it (R.A.) – name: 4 Department of Biopathology and Medical Biotechnologies—Section of Biology and Genetics, University of Palermo, 90133 Palermo, Italy – name: 20 Department of Advanced Medical Sciences, Federico II University of Naples, 80131 Naples, Italy; losi@unina.it – name: 12 Cardiovascular Department, San Donato Hospital, 52100 Arezzo, Italy; mauriziopieroni@yahoo.com – name: 10 Nephrology Unit, Hospital of L’Aquila, 67100 L’Aquila, Italy; claudio.ferri@cc.univaq.it – name: 18 Department of Specialized Medicine, Division of Nephrology and Dialysis, St. Anna Hospital-University, 44124 Ferrara, Italy; yuri.battaglia@ospfe.it – name: 13 Department of Pediatrics, Division of Metabolic Diseases, Turin University Hospital, 10126 Turin, Italy; marco.spada@unito.it – name: 22 Nephrology and Dialysis Unit, Mugello Hospital, A.S. Toscana Centro, Borgo San Lorenzo, 50032 Firenze, Italy; lombardim@tin.it – name: 19 Unit of Nephrology, Ospedali Riuniti Villa Sofia-Cervello, 90146 Palermo, Italy; amicoluisa@gmail.com – name: 8 Division of Cardiology, Second University of Naples, Presidio Monaldi, 80131 Naples, Italy; danielemasarone@libero.it (D.M.); limongelligiuseppe@libero.it (G.L.) – name: 25 Department of Nephrology, Infermi Hospital, 47923 Rimini, Italy; renzo.mignani@auslromagna.it – name: 3 Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children’s Health, University Hospital of Padova, 35128 Padova, Italy; alberto.burlina@unipd.it (A.B.); giulia.polo@aopd.veneto.it (G.P.) – name: 7 Neurology Unit, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, Italy; napoletanorosa10@tiscali.it (R.N.); maurizio.tenuta@sangiovannieruggi.it (M.T.) – name: 2 Neurological Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy; alessandro.burlina@aulss7.veneto.it – name: 24 Nephrology Unit, Grande Ospedale Metropolitano Reggio Calabria, 89124 Reggio Calabria, Italy; maurizio@postorino.eu – name: 14 Paediatric Hospital “G. Di Cristina”, ARNAS Civico, 90134 Palermo, Italy; cinziacastana@virgilio.it (C.C.); caserta_marina@hotmail.com (M.C.) – name: 17 Nephrology and Dialysis Unit, Belcolle Hospital, 01100 Viterbo, Italy; sandro.feriozzi@tiscali.it – name: 16 Institute of Neurological Sciences (ISN), National Research Council, 95126 Catania, Italy; margheritastefania.rodolico@cnr.it – name: 26 Cardiac Arrhythmia Center and Cardiomyopathies Unit, San Camillo-Forlanini Hospital, 00152 Roma, Italy; e.zachara@scf.gov.it – name: 27 Department of Neurology, Guzzardi Hospital, 97019 Vittoria, Italy; antonellomaria.giordano@gmail.com – name: 11 Nephrology Unit, Department of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy; federico.pieruzzi@unimib.it – name: 15 Cardiology Department Echocardiography Laboratory, Department of Cardiothoracic and Vascular, Policlinico Vittorio Emanuele, Catania University, 95124 Catania, Italy; inemonte@unict.it – name: 6 Nephrology Unit, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, Italy; giuseppe.palladino@sangiovannieruggi.it – name: 21 Cardiology Unit, Clinical and Molecular Medicine Department, Faculty of Medicine and Psychology, Sapienza University of Rome, 00161 Rome, Italy; camillo.autore@uniroma1.it – name: 9 Department of Cardiovascular, Respiratory, Nephrologic, Anesthesiologic and GeriatricSciences, Sapienza University, 00161 Rome, Italy; biocard@inmi.it (A.F.); cristina.chimenti@uniroma1.it (C.C.) – name: 23 Institute of Clinical Physiology, Division of Nephrology, National Research Council, 89129 Reggio Calabria, Italy; carmine.zoccali@alice.it (C.Z.); atesta@ifc.cnr.it (A.T.) – name: 5 Department of Public Health, Nephrology Unit, University of Naples “Federico II”, 80131 Naples, Italy; antonio.pisani13@gmail.com (A.P.); elyriccio@libero.it (E.R.) |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30477121$$D View this record in MEDLINE/PubMed |
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| Copyright | 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. 2018 by the authors. 2018 |
| Copyright_xml | – notice: 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. – notice: 2018 by the authors. 2018 |
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| DOI | 10.3390/ijms19123726 |
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| Keywords | Fabry disease GLA gene LysoGb3 |
| Language | English |
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| SubjectTerms | Adolescent Adult Aged Aged, 80 and over Alleles alpha-Galactosidase - genetics Amino Acid Substitution Biomarkers Child Child, Preschool Disease Enzymes Fabry Disease - genetics Female Females Gene expression Genotype Genotype & phenotype Glycolipids - genetics Humans Hypotheses Infant Infant, Newborn Male Males Metabolic disorders Middle Aged Mutation Nervous system Pathology Patients Pediatrics Phenotype Sphingolipids - genetics Young Adult |
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