|
rs28936415
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The R141H mutation in the PMM2 gene is the most frequent mutation in type Ia of the congenital disorders of glycosylation (formerly carbohydrate-deficient glycoprotein syndromes)(CDG-Ia).
|
10854097 |
2000 |
|
rs4630153
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase.
|
11875054 |
2002 |
|
rs4630153
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase.
|
11875054 |
2002 |
|
rs4630153
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The aim of our study was to estimate the frequencies of ALG6-CDG related p.Y131H and p.F304S polymorphisms in the Croatian population.
|
21899441 |
2012 |
|
rs121908023
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation.
|
19451548 |
2009 |
|
rs1276918786
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylalanine to serine at position 304 (F304S) of the alpha 1,3 glucosyl transferase.
|
11875054 |
2002 |
|
rs1420712806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124(∗)]), we noted that their survival was much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age.
|
26805780 |
2016 |
|
rs151319324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole exome sequencing of the patient revealed compound heterozygous mutations of PMM2: c.580C>T (p.Arg194*) and c.713G>C (p.Arg238Pro) which mutations were associated with congenital disorder of glycosylation Ia (CDG-Ia: PMM2-CDG).
|
25681648 |
2015 |
|
rs16835020
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast to a previously reported speculation on R438W we confirmed both mutations as disease-causing in ALG1-CDG.
|
24157261 |
2014 |
|
rs199562225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole exome sequencing of the patient revealed compound heterozygous mutations of PMM2: c.580C>T (p.Arg194*) and c.713G>C (p.Arg238Pro) which mutations were associated with congenital disorder of glycosylation Ia (CDG-Ia: PMM2-CDG).
|
25681648 |
2015 |
|
rs35383149
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of our study was to estimate the frequencies of ALG6-CDG related p.Y131H and p.F304S polymorphisms in the Croatian population.
|
21899441 |
2012 |
|
rs370434427
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We add four new biochemically confirmed variants to the list of ALG3-CDG inducing variants: c.350G>C (p.R117P), c.1263G>A (p.W421*), c.1037A>G (p.N346S), and the intron variant c.296+4A>G.
|
31067009 |
2019 |
|
rs373562040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG.
|
26637979 |
2015 |
|
rs387907202
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we present data identifying a previously reported CDG-IIx case from Singapore as a new COG4 patient with 2 novel mutations leading to p.E233X and p.L773R; with p.E233X being a de novo mutation.
|
21185756 |
2011 |
|
rs387907203
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we present data identifying a previously reported CDG-IIx case from Singapore as a new COG4 patient with 2 novel mutations leading to p.E233X and p.L773R; with p.E233X being a de novo mutation.
|
21185756 |
2011 |
|
rs398123609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing revealed a homozygous missense mutation in dolichyl-phosphate N-acetylglucosaminephosphotransferase (DPAGT1), exon 3, p.Leu118Val, consistent with DPAGT1-CDG.
|
26033833 |
2015 |
|
rs587777116
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carbohydrate deficient transferrin testing showed a pattern pointing to a CDG type I. Sanger sequencing of DPM1 (dolichol-P-mannose synthase subunit 1) revealed a novel Gly > Val change c.455G > T missense mutation resulting in p.Gly152Val) of unknown pathogenicity and deletion/duplication analysis revealed an intragenic deletion from exons 3 to 7 on the other allele.
|
23856421 |
2013 |
|
rs587777323
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124(∗)]), we noted that their survival was much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age.
|
26805780 |
2016 |
|
rs727503904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Electrospray ionization mass spectrometric (ESI-MS) analysis of transferrin identified a type I congenital disorder of glycosylation; next-generation sequencing demonstrated homozygous p.Q483K DOLK mutations that were confirmed in patient fibroblasts to result in severely reduced substrate binding and catalytic activity.
|
24144945 |
2013 |
|
rs753961807
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124(∗)]), we noted that their survival was much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age.
|
26805780 |
2016 |
|
rs779241085
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG.
|
26637979 |
2015 |
|
rs863225089
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124(∗)]), we noted that their survival was much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age.
|
26805780 |
2016 |
|
rs863225089
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124(∗)]), we noted that their survival was much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age.
|
26805780 |
2016 |
|
rs864309660
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG.
|
26637979 |
2015 |
|
rs886037858
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, we describe a family with a congenital disorder of glycosylation caused by a loss of function mutation in the conserved C terminus of NgBR-R290H and show that fibroblasts isolated from patients exhibit reduced dolichol profiles and enhanced accumulation of free cholesterol identically to fibroblasts from mice lacking NgBR.
|
25066056 |
2014 |