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Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations

   | 10 nov. 2020
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Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Recognizable phenotypes in CDG. J Inherit Metab Dis. 2018;41(3):541–53. doi: 10.1007/s10545-018-0156-5 Ferreira CR Altassan R Marques-Da-Silva D Francisco R Jaeken J Morava E Recognizable phenotypes in CDG J Inherit Metab Dis 201841354153 10.1007/s10545-018-0156-5Open DOISearch in Google Scholar

Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, et al. The challenge of CDG diagnosis. Mol Genet Metab. 2019;126(1):1–5. doi: 10.1016/j.ymg-me.2018.11.003 Francisco R Marques-da-Silva D Brasil S Pascoal C Dos Reis Ferreira V Morava E et al The challenge of CDG diagnosis Mol Genet Metab 2019126115 10.1016/j.ymg-me.2018.11.003Open DOISearch in Google Scholar

Jaeken J, Péanne R. What is new in CDG? J Inherit Metab Dis. 2017;40(4):569–86. doi: 10.1007/s10545-017-0050-6. Erratum in: J Inherit Metab Dis. 2017;40(4):621–5. doi: 10.1007/s10545-017-0068-9 Jaeken J PéanneR What is new in CDG? J Inherit Metab Dis 201740456986 10.1007/s10545-017-0050-6 Erratum in: J Inherit Metab Dis. 2017;40(4):621–5. doi: 10.1007/s10545-017-0068-9Open DOISearch in Google Scholar

Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, et al. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet. 2018;61(11):643–63. doi: 10.1016/j.ejmg.2017.10.012 Péanne R de Lonlay P Foulquier F Kornak U Lefeber DJ Morava E et al Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet 2018611164363 10.1016/j.ejmg.2017.10.012Open DOISearch in Google Scholar

Grünewald S. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta. 2009;1792(9):827– 34. doi: 10.1016/j.bbadis.2009.01.003 Grünewald S. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia) Biochim Biophys Acta 200917929827–34 10.1016/j.bbadis.2009.01.003Open DOISearch in Google Scholar

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, et al. Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2. J Am Soc Nephrol. 2017;28(8):2529– 39. doi: 10.1681/ASN.2016121312 Cabezas OR Flanagan SE Stanescu H García-Martínez E Caswell R Lango-Allen H et al Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2 J Am Soc Nephrol 20172882529–39 10.1681/ASN.2016121312Open DOISearch in Google Scholar

Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in congenital disorders of glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020;22(2):268–79. doi: 10.1038/s41436-019-0647-2 Verheijen J Tahata S Kozicz T Witters P Morava E Therapeutic approaches in congenital disorders of glycosylation (CDG) involving N-linked glycosylation: an update Genet Med 202022226879 10.1038/s41436-019-0647-2Open DOISearch in Google Scholar

Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, et al. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG). Ann Neurol. 2019;85(5):740–51. doi: 10.1002/ana.25457 Martínez-Monseny AF Bolasell M Callejón-Póo L Cuadras D Freniche V Itzep DC et al AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG) Ann Neurol 201985574051 10.1002/ana.25457Open DOISearch in Google Scholar

Jaeken J, Lefeber D, Matthijs G. Clinical utility gene card for: Phosphomannose isomerase deficiency. Eur J Hum Genet. 2014;22(9):1153. doi: 10.1038/ejhg.2014.29 Jaeken J Lefeber D Matthijs G Clinical utility gene card for: Phosphomannose isomerase deficiency Eur J Hum Genet 20142291153 10.1038/ejhg.2014.29Open DOISearch in Google Scholar

Diaz J, Kane TD, Leon E. Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. Am J Med Genet A. 2020;182(3):425–30. doi: 10.1002/ajmg.a.61476 Diaz J Kane TD Leon E Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome Am J Med Genet A 2020182342530 10.1002/ajmg.a.61476Open DOISearch in Google Scholar

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, et al. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet J Rare Dis. 2018;13(1):170. doi: 10.1186/s13023-018-0863-x Astrea G Romano A Angelini C Antozzi CG Barresi R Battini R et al Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study Orphanet J Rare Dis 2018131170 10.1186/s13023-018-0863-xOpen DOISearch in Google Scholar

Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, et al. CAD mutations and uridine-responsive epileptic encephalopathy. Brain. 2017;140(2):279–86. doi: 10.1093/brain/aww300 Koch J Mayr JA Alhaddad B Rauscher C Bierau J Kovacs-Nagy R et al CAD mutations and uridine-responsive epileptic encephalopathy Brain 2017140227986 10.1093/brain/aww300Open DOISearch in Google Scholar

Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, et al. The metabolic map into the pathomechanism and treatment of PGM1-CDG. Am J Hum Genet. 2019;104(5):835– 46. doi: 10.1016/j.ajhg.2019.03.003 Radenkovic S Bird MJ Emmerzaal TL Wong SY Felgueira C Stiers KM et al The metabolic map into the pathomechanism and treatment of PGM1-CDG Am J Hum Genet 20191045835–46 10.1016/j.ajhg.2019.03.003Open DOISearch in Google Scholar

Jaeken J, Lefeber DJ, Matthijs G. Clinical utility gene card for: PGM3 defective congenital disorder of glycosylation. Eur J Hum Genet. 2019;27(11):1757–60. doi: 10.1038/s41431-019-0453-y Jaeken J Lefeber DJ Matthijs G Clinical utility gene card for: PGM3 defective congenital disorder of glycosylation Eur J Hum Genet 20192711175760 10.1038/s41431-019-0453-yOpen DOISearch in Google Scholar

Schröder KC, Duman D, Tekin M, Schanze D, Sukalo M, Meester J, et al. Adams-Oliver syndrome caused by mutations of the EOGT gene. Am J Med Genet A. 2019;179(11):2246–51. doi: 10.1002/ajmg.a.61313 Schröder KC Duman D Tekin M Schanze D Sukalo M Meester J et al Adams-Oliver syndrome caused by mutations of the EOGT gene Am J Med Genet A 201917911224651 10.1002/ajmg.a.61313Open DOISearch in Google Scholar

Pravata VM, Muha V, Gundogdu M, Ferenbach AT, Kakade PS, Vandadi V, et al. Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability. Proc Natl Acad Sci USA. 2019;116(30):14961–70. doi: 10.1073/pnas.1900065116 Pravata VM Muha V Gundogdu M Ferenbach AT Kakade PS Vandadi V et al Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability Proc Natl Acad Sci USA 2019116301496170 10.1073/pnas.1900065116Open DOISearch in Google Scholar

Lam BL, Züchner SL, Dallman J, Wen R, Alfonso EC, Vance JM, et al. Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. Adv Exp Med Biol. 2014;801:165–70. doi: 10.1007/978-1-4614-3209-8_21 Lam BL Züchner SL Dallman J Wen R Alfonso EC Vance JM et al Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa Adv Exp Med Biol 201480116570 10.1007/978-1-4614-3209-8_21Open DOISearch in Google Scholar

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, et al. High rate of recurrent De Novo mutations in developmental and epileptic encephalopathies. Am J Hum Genet. 2017;101(5):664–85. doi: 10.1016/j.ajhg.2017.09.008 Hamdan FF Myers CT Cossette P Lemay P Spiegelman D Laporte AD et al High rate of recurrent De Novo mutations in developmental and epileptic encephalopathies Am J Hum Genet 2017101566485 10.1016/j.ajhg.2017.09.008Open DOISearch in Google Scholar

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, et al. ALG1-CDG: clinical and molecular characterization of 39 unreported patients. Hum Mutat. 2016;37(7):653–60. doi: 10.1002/humu.22983 Ng BG Shiryaev SA Rymen D Eklund EA Raymond K Kircher M et al ALG1-CDG: clinical and molecular characterization of 39 unreported patients Hum Mutat 201637765360 10.1002/humu.22983Open DOISearch in Google Scholar

Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, et al. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. J Inherit Metab Dis. 2016;39(5):713–23. doi: 10.1007/s10545-016-9945-x. Erratum in: J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4 Morava E Tiemes V Thiel C Seta N de Lonlay P de Klerk H et al ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies J Inherit Metab Dis 201639571323 10.1007/s10545-016-9945-x Erratum in: J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4Open DOISearch in Google Scholar

Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, et al. ALG9-CDG: new clinical case and review of the literature. Mol Genet Metab Rep. 2017;13:55–63. doi: 10.1016/j. ymgmr.2017.08.004 Davis K Webster D Smith C Jackson S Sinasac D Seargeant L et al ALG9-CDG: new clinical case and review of the literature Mol Genet Metab Rep 2017135563 10.1016/j.ymgmr.2017.08.004Open DOISearch in Google Scholar

Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, et al. ALG9 mutation carriers develop kidney and liver cysts. J Am Soc Nephrol. 2019;30(11):2091–102. doi: 10.1681/ASN.2019030298 Besse W Chang AR Luo JZ Triffo WJ Moore BS Gulati A et al ALG9 mutation carriers develop kidney and liver cysts J Am Soc Nephrol 201930112091102 10.1681/ASN.2019030298Open DOISearch in Google Scholar

Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, et al. DPAGT1 deficiency with encephalopathy (DPAGT1-CDG): clinical and genetic description of 11 new patients. JIMD Rep. 2019;44:85–92. doi: 10.1007/8904_2018_128 Ng BG Underhill HR Palm L Bengtson P Rozet JM Gerber S et al DPAGT1 deficiency with encephalopathy (DPAGT1-CDG): clinical and genetic description of 11 new patients JIMD Rep 2019448592 10.1007/8904_2018_128Open DOISearch in Google Scholar

Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, et al. Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. Mol Genet Metab. 2019;128(1–2):151–61. doi: 10.1016/j.ymg-me.2019.08.003 Pode-Shakked B Heimer G Vilboux T Marek-Yagel D Ben-Zeev B Davids M et al Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation Mol Genet Metab 20191281–215161 10.1016/j.ymg-me.2019.08.003Open DOISearch in Google Scholar

Rush ET, Baker CV, Rizzo WB. Dolichol kinase deficiency (DOLK-CDG): two new cases and expansion of phenotype. Am J Med Genet A. 2017;173(9):2428–34. doi: 10.1002/ajmg.a.38287 Rush ET Baker CV Rizzo WB Dolichol kinase deficiency (DOLK-CDG): two new cases and expansion of phenotype Am J Med Genet A 20171739242834 10.1002/ajmg.a.38287Open DOISearch in Google Scholar

Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, et al. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013;92(6):895–903. doi: 10.1016/j.ajhg.2013.04.022. Epub 2013 May 16. Erratum in: Am J Hum Genet. 2013;92(6):1014. Li M Cheng R Liang J Yan H Zhang H Yang L et al Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease Am J Hum Genet 2013926895903 10.1016/j.ajhg.2013.04.022 Epub 2013 May 16. Erratum in: Am J Hum Genet. 2013;92(6):1014Open DOISearch in Google Scholar

Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, et al. Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. Glycobiology. 2018;28(5):276–283. doi: 10.1093/glycob/cwy014 Takeuchi H Wong D Schneider M Freeze HH Takeuchi M Berardinelli SJ et al Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features Glycobiology 2018285276283 10.1093/glycob/cwy014Open DOISearch in Google Scholar

Bianchi P, Schwarz K, Högel J, Fermo E, Vercellati C, Grosse R, et al. Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations. Br J Haematol. 2016;175(4):696–704. doi: 10.1111/bjh.14271 Bianchi P Schwarz K Högel J Fermo E Vercellati C Grosse R et al Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations Br J Haematol 20161754696704 10.1111/bjh.14271Open DOISearch in Google Scholar

Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM, et al. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. J Med Genet. 2015;52(10):666–75. doi: 10.1136/jmedgenet-2015-103279 Farhan SM Wang J Robinson JF Prasad AN Rupar CA Siu VM et al Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses J Med Genet 2015521066675 10.1136/jmedgenet-2015-103279Open DOISearch in Google Scholar

Jaeken J, Lefeber DJ, Matthijs G. Clinical utility gene card For: GALNT3 defective congenital disorder of glycosylation. Eur J Hum Genet. 2018;26(8):1230–3. doi: 10.1038/s41431-017-0002-5 Jaeken J Lefeber DJ Matthijs G Clinical utility gene card For: GALNT3 defective congenital disorder of glycosylation Eur J Hum Genet 201826812303 10.1038/s41431-017-0002-5Open DOISearch in Google Scholar

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, et al. SLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals. Hum Mutat. 2019;40(7):908–925. doi: 10.1002/humu.23731 Ng BG Sosicka P Agadi S Almannai M Bacino CA Barone R et al SLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals Hum Mutat 2019407908925 10.1002/humu.23731Open DOISearch in Google Scholar

Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, et al. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. J Inherit Metab Dis. 2015;38(5):931–40. doi: 10.1007/s10545-015-9828-6 Dörre K Olczak M Wada Y Sosicka P Grüneberg M Reunert J et al A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach J Inherit Metab Dis 201538593140 10.1007/s10545-015-9828-6Open DOISearch in Google Scholar

Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, et al. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018;83(6):1133–46. doi: 10.1002/ana.25243 Winawer MR Griffin NG Samanamud J Baugh EH Rathakrishnan D Ramalingam S et al Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy Ann Neurol 2018836113346 10.1002/ana.25243Open DOISearch in Google Scholar

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, et al. A recurrent De Novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation. Am J Hum Genet. 2018;103(4):553– 67. doi: 10.1016/j.ajhg.2018.09.003 Ferreira CR Xia ZJ Clément A Parry DA Davids M Taylan F et al A recurrent De Novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation Am J Hum Genet 20181034553–67 10.1016/j.ajhg.2018.09.003Open DOISearch in Google Scholar

Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, et al. XYLT1 mutations in Desbuquois dysplasia type 2. Am J Hum Genet. 2014;94(3):405–14. doi: 10.1016/j.ajhg.2014.01.020 Bui C Huber C Tuysuz B Alanay Y Bole-Feysot C Leroy JG et al XYLT1 mutations in Desbuquois dysplasia type 2 Am J Hum Genet 201494340514 10.1016/j.ajhg.2014.01.020Open DOISearch in Google Scholar

LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, et al. GGC Repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome. Am J Hum Genet. 2019;104(1):35–44. doi: 10.1016/j. ajhg.2018.11.005 LaCroix AJ Stabley D Sahraoui R Adam MP Mehaffey M Kernan K et al GGC Repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome Am J Hum Genet 201910413544 10.1016/j.ajhg.2018.11.005Open DOISearch in Google Scholar

Balasubramanian M, Johnson DS; DDD Study. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. Eur J Med Genet. 2019;62(2):109–114. doi: 10.1016/j.ejmg.2018.06.011 Balasubramanian M JohnsonDS DDD Study. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature Eur J Med Genet 2019622109114 10.1016/j.ejmg.2018.06.011Open DOISearch in Google Scholar

Park JH, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, et al. SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy. Genet Med. 2018;20(2):259–68. doi: 10.1038/gim.2017.106 Park JH Hogrebe M Fobker M Brackmann R Fiedler B Reunert J et al SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy Genet Med 201820225968 10.1038/gim.2017.106Open DOISearch in Google Scholar

Zaum AK, Kolokotronis K, Kress W, Goebel HH, Rost S, Seeger J. A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy. Neuromuscul Disord. 2018;28(8):671–4. doi: 10.1016/j.nmd.2018.06.006 Zaum AK Kolokotronis K Kress W Goebel HH Rost S Seeger J A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy Neuromuscul Disord 20182886714 10.1016/j.nmd.2018.06.006Open DOISearch in Google Scholar