Erratum to: What is new in CDG? ERRATUM Erratum to: What is new in CDG? Jaak Jaeken1 & Romain Péanne2 Published online: 26 June 2017 # SSIEM 2017 Erratum to: J Inherit Metab Dis DOI 10.1007/s10545-017-0050-6 Due to a typesetting error, part of Table 2 is missing in the pdf file. The online version of Table 2 is correct. The original article was corrected. The online version of the original article can be found under doi:10.1007/ s10545-017-0050-6 * Jaak Jaeken jaak.jaeken@kuleuven.be 1 Center for Metabolic Diseases, University Hospital Gasthuisberg, KU Leuven, Herestraat 49, BE 3000 Leuven, Belgium 2 Department of Human Genetics, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium J Inherit Metab Dis (2017) 40:621–625 DOI 10.1007/s10545-017-0068-9 http://dx.doi.org/10.1007/s10545-017-0050-6 http://dx.doi.org/10.1007/s10545-017-0050-6 http://crossmark.crossref.org/dialog/?doi=10.1007/s10545-017-0068-9&domain=pdf Table 2 List of all CDG reported up to date according to their cellular location and the different pathways. The asterisk (*) refers to recently reported CDG which are highlighted in this review. The CDG for which there is a causative treatment are highlighted in yellow Table 2.1 Defects localized in the cytosol NAME CLINICALLY AFFECTED ORGANS AND TISSUES DEFECTIVE PROTEIN TF-IEF MOI Protein N-glycosylation disorders Synthesis of monosaccharides GMPPA-CDG Autonomic nerve fibers of distal oesophagus (achalasia) and lacrimal glands (alacrimia), neurons (brain, hearing system, visual system) Guanosine diphosphate mannose pyrophosphorylase A GMPPB-CDG Brain, skeletal muscles, eyes, heart Guanosine diphosphate mannose pyrophosphorylase B MPI-CDG Intestine, liver Mannose 6-phosphate isomerase Type 1 PMM2-CDG Nervous system, fat tissue, and nearly all other organs Phosphomannomutase 2 Type 1 Protein O-glycosylation disorders Defects in O-N-acetylglucosaminylglycan synthesis EOGT-CDG Skin (aplasia cutis congenita), skeleton (terminal transverse limb defect) EGF domain-specific O-GlcNAc transferase Defects in multiple and other glycosylation pathways Defects in dolichol synthesis DHDDS-CDG* (retinitis pigmentosa 59) Retina Dehydrodolichyl diphosphate Type 1 Defects in monosaccharide synthesis CAD-CDG* Brain, blood cells Carbamoyl-phosphate synthetase 2 (CPS2) and aspartate transcarbamylase (ATCase) activities of the trifunctional enzyme CAD GFPT1-CDG (limb girdle congenital myasthenic syndrome) Neuromuscular junction, skeletal muscles Glutamine:fructose 6-phosphate amidotransferase 1 GNE-CDG (hereditary inclusion body myopathy) Skeletal muscles (with sparing of quadriceps muscles), rarely cardiac muscles UDP-GlcNAc 2-epimerase/Man-NAc kinase NANS-CDG* Brain, skeleton N-acetylneuraminic acid synthase PGM1-CDG Uvula (palate, lips), heart, liver, muscles, endocrine organs Phosphoglucomutase 1 Type 2 PGM3-CDG* Brain, immune system, skeleton Phosphoglucomutase 3 Defects in nucleotide-sugar synthesis CPS2-CDG Brain, intestine, kidneys, erythrocytes Carbamylphosphate synthetase 2 deficiency Table 2.2 Defects localized in the ER NAME CLINICALLY AFFECTED ORGANS AND TISSUES DEFECTIVE PROTEIN TF-IEF MOI Protein N-glycosylation disorders ALG1-CDG Brain, and variable involvement of eyes, heart, liver, beta cells, kidneys, gonads Mannosyltransferase 1 Type 1 ALG2-CDG Brain, eyes, skeletal muscles, neuromuscular junction (congenital myasthenic syndrome) Mannosyltransferase 2 Type 1 ALG3-CDG Brain, skeleton Mannosyltransferase 6 Type 1 ALG6-CDG Brain, and variable involvement of eyes, gastrointestinal system, liver, heart and skeleton Glucosyltransferase 1 Type 1 ALG8-CDG Brain, and variable involvement of eyes, skin, liver and intestine Glucosyltransferase 2 Type 1 ALG9-CDG* Brain, liver, kidneys, and variable involvement of adipose tissue, heart, skeleton, intestine Mannosyltransferase 7/9 Type 1 ALG11-CDG Brain, hearing system Mannosyltransferase 4/5 Type 1 ALG12-CDG Brain, skeleton, heart, genitalia and immune system Mannosyltransferase 8 Type 1 ALG13-CDG Brain, eyes, liver UDP-GlcNAc:Dol-P-GlcNAc-P transferase Type 1 X-linked ALG14-CDG Neuromuscular junction (congenital myasthenic syndrome) UDP-GlcNAc:Dol-PP-GlcNAc transferase Type 1 DDOST-CDG Brain, eyes, liver Oligosaccharyltransferase subunit DDOST Type 1 DPAGT1-CDG Brain, neuromuscular junction (congenital myasthenic syndrome) UDP-GlcNAc: Dol-P-GlcNAc-P Type 1 MOGS-CDG Brain, skeleton, immune system Mannosyl-oligosaccharide glycosidase (glucosidase 1) GANAB-CDG* Liver, kidneys (polycystic) Glucosidase II subunit α AD PRKCSH-CDG Liver, kidneys (polycystic) Glucosidase II subunit β AD 622 J Inherit Metab Dis (2017) 40:621–625 RFT1-CDG Brain, hearing system Flippase of Man5GlcNAc2-PP-Dol Type 1 STT3A-CDG Brain, gastrointestinal tract Oligosaccharyltransferase subunit STT3A Type 1 STT3B-CDG Brain, optic nerve, gastrointestinal tract Oligosaccharyltransferase subunit STT3B Type 1 (mild) SSR3-CDG Brain, lungs, gastrointestinal system Signal sequence receptor 3 of TRAP complex Type 1 (disialo increase only) SSR4-CDG* Brain, respiratory system, skeleton Signal sequence receptor 4 of TRAP complex Type 1 (mild) X-linked TUSC3-CDG Brain (non-syndromic autosomal recessive mental disability) Oligosaccharyltransferase subunit TUSC3 Type 1 Protein O-glycosylation disorders Defect in O-xylosyl/N-acetylgalactosaminylglycan synthesis SLC35D1-CDG (Schneckenbecken dysplasia) Skeleton (generalized; radiographic snail-like configuration of iliac bones)( stillborn or lethal in the neonatal period) Solute carrier family 35 (UDP-glucuronic acid/UDP-N- acetylgalactosamine dual transporter) member D1 Defect in O-glucosylglycan synthesis POGLUT1-CDG* Skin (progressive reticular hyper- and hypopigmentation) Protein O-glucosyltransferase 1 AD Defects of lipid glycosylation and of glycosylphosphatidylinositol synthesis Defects in glycosylphosphatidylinositol synthesis PIGA-CDG* Brain, heart, liver, kidneys, skin UDP-GlcNAc:phosphatidylinositol N-acetylglucosaminyltransferase subunit X- linked PIGC-CDG* Brain UDP-GlcNAc:phosphatidylinositol N-acetylglucosaminyltransferase subunit PIGG-CDG* Brain Glycosylphosphatidylinositol ethanolamine phosphate transferase 2 PIGL-CDG (CHIME syndrome) Brain, eyes, hearing system, heart, skin GlcNAc-phosphatidylinositol de-acetylase PIGM-CDG Brain, hepatic veins Dol-P-Man:phosphatidylinositol mannosyltransferase 1 PIGN-CDG Brain, skeleton (including palate, fingers), cardiovascular system, kidneys Glycosylphosphatidylinositol ethanolamine phosphate transferase 1 PIGO-CDG Brain, lips, fingers, toes, anus/rectum, hearing system, cardiovascular system Glycosylphosphatidylinositol ethanolaminephosphate transferase 3 PIGQ-CDG Brain UDP-GlcNAc:phosphatidylinositol N-acetylglucosaminyltransferase subunit PIGT-CDG Brain, eyes, heart, kidneys, skeleton PIGT transamidase subunit PIGV-CDG Brain, fingers, toes, and less frequent involvement of lips, palate, anus/rectum, hearing system Dol-P-Man:phosphatidylinositol mannosyltransferase 2 PIGW-CDG* Brain, skeleton Phosphatidylinositol acylase PIGY-CDG* Brain, fingers, toes UDP-GlcNAc:phosphatidylinositol N-acetylglucosaminyltransferase subunit PGAP1-CDG Brain Phosphatidylinositol deacylase Defects in multiple and other glycosylation pathways Defects in dolichol synthesis DOLK-CDG Brain, heart, skin Dolichol kinase Type 1 NUS1-CDG* Brain, eyes (bilateral macular lesions), skeleton Nogo-B receptor (subunit of cis-prenyltransferase) Type 1 SRD5A3-CDG Brain, eyes, heart, skin, joints Steroid 5 α-reductase 3 Type 1 Defects in dolichol utilization/recycling DPM1-CDG Brain, eyes, skeletal muscles GDP-Man:Dol-P-mannosyltransferase 1 (Dol-P-Man synthase 1) Type 1 DPM2-CDG Brain, skeletal muscles GDP-Man:Dol-P-mannosyltransferase 2 (Dol-P-Man synthase 2) Type 1 DPM3-CDG Skeletal and cardiac muscles GDP-Man:Dol-P-mannosyltransferase 3 (Dol-P-Man synthase 3) Type 1 MPDU1-CDG Brain, eyes, skin Man-P-Dol utilization 1 Type 1 Defects in the v-ATPase complex ATP6AP1-CDG* Brain, B cells, liver (muscles, hearing system) Accessory protein Ac45 of the V-ATPase Type 2 X-linked Other defects TRAPPC11-CDG* Muscles (limb girdle muscular dystrophy, type 2S) Trafficking protein particle complex (TRAPPIII), subunit 11 NA. J Inherit Metab Dis (2017) 40:621–625 623 Table 2.3 Defects localized in the Golgi NAME CLINICALLY AFFECTED ORGANS AND TISSUES DEFECTIVE PROTEIN TF-IEF MOI Protein N-glycosylation disorders MAN1B1-CDG Brain, cranial skeleton, fat tissue Golgi α1-2 mannosidase 1 Type 1 MGAT2-CDG Brain, skeleton, intestine, immune system N-Acetylglucosaminyltransferase 2 Type 2 Protein O-glycosylation disorders Defect in O-xylosylglycan synthesis B4GALT7-CDG Brain, skeleton (short stature, bowing of extremities), articulations (hyperlaxity, dislocations), skin (premature aging phenotype) B-1,4-galactosyltransferase 7 B3GALT6-CDG Skeleton (spondyloepimetaphyseal dysplasia with bone fragility, severe kyphoscoliose), joints, skin (fragility, delayed wound healing) Β-1,3-galactosyltransferase 6 B3GAT3-CDG Brain, aorta, heart, skeleton, joints, skin, teeth B-1,3-glucuronyltransferase 3 CHSY1-CDG (Tentamy preaxial brachydactyly syndrome) Brain, teeth, skeleton (particularly brachydactyly), hearing system Chondroitin β-1,4-N-acetylgalactosaminyltransferase 1 (chondroitin synthase 1) EXT1-CDG (multiple cartilaginous exostoses) Cartilage (osteochondromas of the ends of long bones) Exostosin 1 AD EXT2-CDG* (multiple cartilaginous exostoses) Cartilage (osteochondromas of the ends of long bones) Exostosin 2 AD XYLT1-CDG* Brain, skeleton (short stature, advanced bone age), articulations (joint laxity), fat Xylosyltransferase 1 XYLT2-CDG* Brain, eyes, heart, hearing system, bones Xylosyltransferase 2 Defect in O-N-acetylgalactosaminalglycan synthesis GALNT3-CDG (familial hyperphosphatemic tumoral calcinosis) Subcutaneous tissue (painful calcified masses) UDP-N-acetyl-α-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3 Defects in O-fucosylglycan synthesis LFNG-CDG (spondylocostal dysostosis type 3) Axial skeleton, associated muscles O-fucose-specific β-1,3-N-acetylglucosaminyltransferase POFUT1-CDG (Dowling-Degos disease 2) Skin (progressive reticular hyper- and hypopigmentation) Protein O-fucosyltransferase 1 AD Defects of lipid glycosylation and of glycosylphosphatidylinositol synthesis Defects in lipid glycosylation B4GALNT1-CDG (spastic paraplegia 26, autosomal recessive) Brain, peripheral nerves (spastic paraplegia), gonads B-1,4-N-acetylgalactosaminyltransferase 1 (GM2 synthase) ST3GAL5-CDG (Amish infantile epilepsy; salt and pepper syndrome) Brain, hearing system, skin Lactosylceramide α-2,3-sialyltransferase (GM3 synthase) Defects in glycosylphosphatidylinositol synthesis PGAP2-CDG Brain Phosphatidylinositol glycerol acylase PGAP3-CDG* Brain, skeleton Phosphatidylinositol glycerol deacylase Defects in multiple and other glycosylation pathways Defects in glycosyltransferases B4GALT1-CDG Face (dysmorphism), eyes (myopia) B-1,4-galactosyltransferase Type 2 ST3GAL3-CDG Brain B-galactoside α-2,3-sialyltransferase 3 Defects in nucleotide-sugar transporters SLC35A1-CDG Brain, heart, kidneys, platelets CMP-sialic acid transporter Type 2 SLC35A2-CDG Brain, eyes, gastrointestinal system, skeleton UDP-galactose transporter Type 2 X-linked SLC35A3-CDG Brain, skeleton UDP-GlcNAc transporter SLC35C1-CDG Brain, cranial skeleton, neutrophils GDP-fucose transporter Defects in the COG complex COG1-CDG Brain, skeleton COG component 1 Type 2 COG2-CDG Brain, liver COG component 2 Type 2 COG4-CDG Brain, face COG component 4 Type 2 624 J Inherit Metab Dis (2017) 40:621–625 The pdf file has been corrected. We apologize for this error. COG5-CDG Brain, hearing system, vision, liver, bladder COG component 5 Type 2 COG6-CDG Brain, gastrointestinal system including liver, immune system COG component 6 Type 2 COG7-CDG Brain, skeleton, skin, gastrointestinal system including liver, heart COG component 7 Type 2 COG8-CDG Brain, eyes, peripheral nervous system COG component 8 Type 2 Defects in the v-ATPase complex ATP6V0A2-CDG (autosomal recessive cutis laxa type II; wrinkly skin syndrome) Skin (cutis laxa becoming less obvious with age), brain (mental development mostly normal), eyes, neuromuscular system, skeleton V0 subunit A2 of V-ATPase Type 2 Other defects TMEM165-CDG Brain, skeleton (particularly cartilage), joints, heart, liver, kidneys Transmembrane protein 165 Type 2 VPS13B-CDG* (Cohen syndrome) Brain, eyes (chorioretinal dystrophy with myopia), joints, immune system (neutropenia), fat tissue Vacuolar protein sorting-associated protein 13B Table 2.4 Defects localized in the ERGIC NAME CLINICALLY AFFECTED ORGANS AND TISSUES DEFECTIVE PROTEIN TF-IEF MOI Defects in multiple and other glycosylation pathways Defects in COPII SEC23B-CDG (congenital dyserythropoietic anemia type II) Red cell lineage (secondary involvement of heart, liver, beta cells) COPII component SEC23B Other defects CCDC115-CDG* Liver, spleen, brain Coiled-coil domain containing 115 Type 2 TMEM199 -CDG* Liver Transmembrane protein 199 Type 2 Table 2.5 Defects localized at the plasma membrane NAME CLINICALLY AFFECTED ORGANS AND TISSUES DEFECTIVE PROTEIN TF-IEF MOI Defects in multiple and other glycosylation pathways SLC39A8-CDG* Brain, skeleton, immune system Manganese and zinc transporter Type 2 Table 2.6 Defects localized at the sarcolemma membrane NAME CLINICALLY AFFECTED ORGANS AND TISSUES DEFECTIVE PROTEIN TF-IEF MOI Defects in O-mannosylglycan synthesis B3GALNT2-CDG Brain, eyes, skeletal muscles B-1,3-N-acetylgalactosaminyltransferase 2 FKTN-CDG* Brain, eyes, skeletal muscles Ribitol-5-phosphate transferase FKRP-CDG* Brain, eyes, skeletal muscles Ribitol-5-phosphate transferase ISPD-CDG* Brain, eyes, skeletal muscles Isoprenoid synthase domain-containing protein (CDP-ribitol synthase) LARGE-CDG Brain, eyes, skeletal muscles Acetylglucosaminyltransferase-like protein POMGNT1-CDG (muscle-eye-brain disease, isolated RP) Brain, eyes, skeletal muscles Protein O-mannose β-1,2-N- acetylglucosaminyltransferase 1 POMT1-CDG (cerebro-ocular dysplasia- muscular dystrophy syndrome) Brain, eyes, skeletal muscles, heart Protein O-mannosyltransferase 1 POMT2-CDG (cerebro-ocular dysplasia- muscular dystrophy syndrome) Brain, eyes, skeletal muscles Protein O-mannosyltransferase 2 TMEM5-CDG* Brain, eyes, skeletal muscles, gonades O-mannosylation β-1,4-xylosyltransferase J Inherit Metab Dis (2017) 40:621–625 625 Erratum to: What is new in CDG?