rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
In concordance with previous reports, IVS2+1G>A and P426L were the most common ARSA-MLD mutations in our cohort of MLD patients, found at frequencies of 0.05 and 0.08, respectively.
|
25965562 |
2015 |
rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).
|
20339381 |
2010 |
rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy.
|
16966551 |
2006 |
rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Our study has confirmed that c.459+1G>A and p.P426L are the most frequently found MLD-causing mutations in Europe.
|
16140556 |
2005 |
rs28940893
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The two common alleles, 459+1G > A and P426L, together accounted for 42% of all 50 unrelated MLD alleles investigated; I179S was observed in 6 of 50 MLD alleles (12%).
|
9096767 |
1997 |
rs74315457
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).
|
20339381 |
2010 |
rs74315457
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy.
|
16966551 |
2006 |
rs74315457
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The two common alleles, 459+1G > A and P426L, together accounted for 42% of all 50 unrelated MLD alleles investigated; I179S was observed in 6 of 50 MLD alleles (12%).
|
9096767 |
1997 |
rs74315457
|
|
|
0.740 |
GeneticVariation |
BEFREE |
It seems that I179S mutation on one allele with another mutation on the other allele reduces ASA activity, but the enzyme can still cope with a part of the substrate influx, leading to late-juvenile-onset MLD with such strikingly similar phenotypes remaining a little bit of the adult (psychiatric) type.
|
9007312 |
1996 |
rs74315455
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The other allele, with a substitution of Gly-99 by Asp (allele 445A), had been identified in a Japanese adult form of MLD in a heterozygous combination.
|
8101083 |
1993 |
rs74315455
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.
|
1673291 |
1991 |
rs199476357
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD.
|
16678723 |
2006 |
rs199476361
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We analysed the ARSA gene in eight unrelated Italian families with different clinical variants of MLD and identified three novel mutations: two Ser406Gly, (Glu329Ter) associated with late infantile MLD and one (Leu52Pro) with juvenile MLD.
|
16678723 |
2006 |
rs199476383
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The F219V substitution causes reduction in enzyme activity to an extent unexpected for an adult patient with MLD.
|
15710861 |
2005 |
rs199476384
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The mutations F247S and P136S were found in compound heterozygous with the "A" allele in two patients with juvenile onset MLD.
|
14680985 |
2003 |
rs199476385
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report on the novel missense mutations (F247S, D381E, and A46</span>9G) and the known mutations "A" allele and P136S in the ARSA gene in three unrelated Ukrainian families with MLD.
|
14680985 |
2003 |
rs60504011
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report on the novel missense mutations (F247S, D381E, and A469G) and the known mutations "A" allele and P136S in the ARSA gene in three unrelated Ukrainian families with MLD.
|
14680985 |
2003 |
rs6151425
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The clinical features of the typical patient with genotype D381E/A469G (early onset with very rapid manifestation of disease) suggest the reason to distinguish an early infantile MLD variant.
|
14680985 |
2003 |
rs28940895
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
|
11456299 |
2001 |
rs199476390
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
|
10751093 |
2000 |
rs199476374
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
|
10381328 |
1999 |
rs80338819
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The distribution of mutation D255H (frequency 19.4%) among patients with different MLD clinical presentation revealed a clear genotype-phenotype correlation paralleling that reported for mutation IVS2+1G-->A (frequency 25%).
|
10477432 |
1999 |
rs74315458
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine substitution is associated with some residual ARSA activity.
|
1353340 |
1992 |
rs777431148
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel p.L113P mutation in a Pakistani family with late infantile MLD has a pathogenic and destructive effect on the protein structure and function of ARSA.
|
28799099 |
2017 |
rs1410667898
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A metachromatic leukodystrophy was diagnosed by decreased arylsulfatase-A activity in leucocytes/fibroblasts and identification of a compound heterozygous mutation in the ARSA gene: c.542T>G (exon 3) and the novel mutation c.1013T>C (exon 6).
|
26890752 |
2016 |