Table 1.

Molecular Genetics of Congenital Disorders of Glycosylation

CDG Type 1# of Cases Reported 2Gene 3Protein 3MOI
CDG-N-linked
PMM2-CDG (CDG-Ia)700 4 PMM2 Phosphomannomutase 2AR
MPI-CDG (CDG-Ib)20 MPI Mannose-6-phosphate isomeraseAR
ALG6-CDG (CDG-Ic)89 ALG6 Dolichyl pyrophosphate Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferaseAR
ALG3-CDG (CDG-Id)11 ALG3 Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferaseAR
DPM1-CDG (CDG-Ie)9 DPM1 Dolichol-phosphate mannosyltransferase subunit 1AR
MPDU1-CDG (CDG-If)5 MPDU1 Mannose-P-dolichol utilization defect 1 proteinAR
ALG12-CDG (CDG-Ig)7 ALG12 Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferaseAR
ALG8-CDG (CDG-Ih)5 ALG8 Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferaseAR
ALG2-CDG (CDG-Ii)≤2 ALG2 Alpha-1,3/1,6-mannosyltransferase ALG2AR
DPAGT1-CDG (CDG-Ij)5 DPAGT1 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferaseAR
ALG1-CDG (CDG-Ik)57ALG1 (HMT-1)Chitobiosyldiphosphodolichol beta-mannosyltransferaseAR
ALG9-CDG (CDG-IL)≤2 ALG9 Alpha-1,2-mannosyltransferase ALG9AR
DOLK-CDG (CDG-Im)≤2 DOLK (DK1) Dolichol kinaseAR
RFT1-CDG (CDG-In)6 RFT1 Protein RFT1 homologAR
DPM3-CDG (CDG-Io)≤2 DPM3 Dolichol-phosphate mannosyltransferase subunit 3AR
ALG11-CDG (CDG-Ip)4 ALG11 GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferaseAR
SRD5A3-CDG (CDG-Iq)15 SRD5A3 Polyprenol reductaseAR
DDOST-CDG (CDG-Ir)1 DDOST Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunitAR
MAGT1-CDG4 MAGT1 Magnesium transporter protein 1XL
TUSC3-CDG12 TUSC3 Tumor suppressor candidate 3AR
ALG13-CDG1 ALG13 Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13XL
PGM1-CDG2 PGM1 Phosphoglucomutase-1AR
MGAT2-CDG (CDG-IIa)4 MGAT2 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseAR
STT3A-CDG, STT3B-CDG2 STT3A, STT3B Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A/STT3BAR
SSR4-CDG<2 SSR4 Translocon-associated protein subunit deltaXL
MOGS-CDG (CDG-IIb)≤2 MOGS (GCS1) Mannosyl-oligosaccharide glucosidaseAR
SLC35C1-CDG (CDG-IIc)≤2 SLC35C1 GDP-fucose transporter 1AR
B4GALT1-CDG (CDG-IId)≤2 B4GALT1 Beta-1,4-galactosyltransferase 1AR
SLC35A2-CDG<2SLC35A2UDP-galactose translocatorXL
GMPPA-CDG<2 GMPPA Mannose-1-phosphate guanyltransferase alphaAR
Multiple-pathway disorders
COG7-CDG (CDG-IIe)≤2 COG7 Conserved oligomeric Golgi complex subunit 7AR
SLC35A1-CDG (CDG-IIf)≤2 SLC35A1 CMP-sialic acid transporterAR
COG1-CDG (CDG-IIg)≤2 COG1 Conserved oligomeric Golgi complex subunit 1AR
COG2-CDG1 COG2 Conserved oligomeric Golgi complex subunit 2AR
COG8-CDG (CDG-IIh)≤2 COG8 Conserved oligomeric Golgi complex subunit 8AR
COG5-CDG (CDG-IIi)7 COG5 Conserved oligomeric Golgi complex subunit 5AR
COG4-CDG (CDG-IIj)≤2 COG4 Conserved oligomeric Golgi complex subunit 4AR
TMEM165-CDG (CDG-IIk)5 TMEM165 Transmembrane protein 165AR
COG6-CDG (CDG-IIL)17 COG6 Conserved oligomeric Golgi complex subunit 6AR
DPM2-CDG<2 DPM2 Dolichol phosphate-mannose biosynthesis regulatory proteinAR
DHDDS-CDG<2 DHDDS Dehydrodolichyl diphosphate syntase complex subunit DHDDSAR
MAN1B1-CDG<2 MAN1B1 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidaseAR
PGM3-CDG8 PGM3 Phosphoglucomutase 3AR

AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked inheritance

1.

The nomenclature used for CDG types includes a Roman numeral, I or II, and a letter (a-z) [Aebi et al 1999]. The Roman numeral is based on transferrin oligosaccharide analytic pattern: Type I and Type II. Letters are assigned in chronologic order of the date of publication of discovery.

2.

Proportion of CDG types as reported in Jaeken [2010]

3.

Data are compiled from the following standard references: gene from HGNC; protein from UniProt.

4.

The prevalence of PMM2-CDG (CDG-1a) may be as high as 1:20,000 [Jaeken & Matthijs 2001]. The expected carrier frequency of PMM2 pathogenic variants in the Danish population is 1:60-1:79 [Matthijs et al 2000].

From: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

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