The Clinical and Molecular Spectrum of GM1 Gangliosidosis

The Journal of Pediatrics - Tập 215 - Trang 152-157.e3 - 2019
Laila Arash-Kaps1, Katalin Komlosi2, Marlene Seegräber1, Stefan Diederich2, Eduard Paschke3, Yasmina Amraoui1, Skadi Beblo4, Andrea Dieckmann5, Martin Smitka6, Julia B. Hennermann1
1Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany
2Adolescent Medicine, and Institute of Human Genetics, University Medical Center Mainz, Germany
3University Children's Hospital Graz, Austria
4Department of Women and Child Health, Hospital for Children and Adolescents, Centre for Paediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig
5Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena
6Neuropediatric Department, Carl Gustav Carus University Children's Hospital Dresden, Germany

Tài liệu tham khảo

Brunetti-Pierri, 2008, GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects, Mol Genet Metab, 94, 391, 10.1016/j.ymgme.2008.04.012 Suzuki, 1991, Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency, Dev Neurosci, 13, 299, 10.1159/000112201 Regier, 1993, GLB1-related disorders Kannebley, 2015, Clinical findings and natural history in ten unrelated families with juvenile and adult GM1 gangliosidosis, JIMD Rep, 24, 115, 10.1007/8904_2015_451 Karimzadeh, 2017, Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene, BMC Med Genet, 18, 73, 10.1186/s12881-017-0417-4 Lee, 2018, Diagnostic challenge for the rare lysosomal storage disease: late infantile GM1 gangliosidosis, Brain Dev, 40, 383, 10.1016/j.braindev.2018.01.009 Caciotti, 2003, Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient, Hum Genet, 113, 44, 10.1007/s00439-003-0930-8 2013, World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects, JAMA, 310, 2191, 10.1001/jama.2013.281053 Hofer, 2010, Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations, Clin Genet, 78, 236, 10.1111/j.1399-0004.2010.01379.x Hollak, 1994, Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease, J Clin Invest, 93, 1288, 10.1172/JCI117084 Kooper, 2006, Lysosomal storage diseases in non-immune hydrops fetalis pregnancies, Clin Chim Acta, 37, 176, 10.1016/j.cca.2006.03.007 Silva, 1999, Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis, Hum Mutat, 13, 401, 10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Feng, 2018, Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis, Metab Brain Dis, 33, 2051, 10.1007/s11011-018-0315-2 Sperb, 2013, Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis, Gene, 512, 113, 10.1016/j.gene.2012.09.106 Caciotti, 2011, GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings, Biochim Biophys Acta, 1812, 782, 10.1016/j.bbadis.2011.03.018 Jarnes Utz, 2017, Infantile gangliosidoses: mapping a timeline of clinical changes, Mol Genet Metab, 121, 170, 10.1016/j.ymgme.2017.04.011 Azarsiz, 2017, Chitotriosidase enzyme activity: is this a possible chronic inflammation marker in children with common variable immunodeficiency and early atherosclerosis?, Ann Clin Biochem, 54, 636, 10.1177/0004563216675647 Wajner, 2007, Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease, Clin Biochem, 40, 365, 10.1016/j.clinbiochem.2006.12.003 Yamashita, 1981, Urinary oligosaccharides of GM1-gangliosidosis. Different excretion patterns of oligosaccharides in the urine of type 1 and type 2 subgroups, J Biol Chem, 256, 4789, 10.1016/S0021-9258(19)69322-1 Xia, 2013, Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases, Clin Chem, 59, 1357, 10.1373/clinchem.2012.201053 Callahan, 1999, Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein, Biochim Biophys Acta, 1455, 85, 10.1016/S0925-4439(99)00075-7 Boustany, 1993, Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients, Am J Hum Genet, 53, 881 Santamaria, 2007, Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America, Clin Genet, 71, 273, 10.1111/j.1399-0004.2007.00767.x Santamaria, 2006, Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies, Hum Mutat, 27, 1060, 10.1002/humu.9451 Chakraborty, 1994, Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis, Am J Hum Genet, 54, 1004 Morrone, 2000, Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement, Hum Mutat, 15, 354, 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L Paschke, 2001, Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B, Hum Genet, 109, 159, 10.1007/s004390100570 Yoshida, 1991, Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases, Am J Hum Genet, 49, 435 Kaye, 1997, Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis, J Child Neurol, 12, 242, 10.1177/088307389701200404 Nishimoto, 1991, GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients, Am J Hum Genet, 49, 566