rs1050228
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).
|
25811928 |
2015 |
rs120074117
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Recently, a missense mutation in the ASM gene (designated R496L) was detected in more than 30% of the ASM alleles from Ashkenazi Jewish type A NPD patients.
|
1391960 |
1992 |
rs120074117
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs120074117
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Herein we describe detailed characterization of four common mutations (L302P, H421Y, R496L and DeltaR608) within the acid sphingomyelinase (ASM) gene causing types A and B Niemann-Pick disease (NPD).
|
18815062 |
2008 |
rs120074118
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B.
|
12694237 |
2003 |
rs120074118
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
|
15545621 |
2004 |
rs120074120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Transient expression of the fsL178, L261X, and M382I mutations in COS-1 cells demonstrated that these lesions did not produce catalytically active ASM, consistent with the severe neuronopathic Type A NPD phenotype.
|
1618760 |
1992 |
rs120074121
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Transient expression of the fsL178, L261X, and M382I mutations in COS-1 cells demonstrated that these lesions did not produce catalytically active ASM, consistent with the severe neuronopathic Type A NPD phenotype.
|
1618760 |
1992 |
rs120074124
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs120074124
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The identification of the L302P mutation should further facilitate molecular carrier detection for NPD in the Ashkenazi Jewish population, particularly because the L302P mutation can be easily detected using the restriction enzyme, AlwNl.
|
1391960 |
1992 |
rs120074124
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage disorder, was reported to be associated with increased risk of Parkinson's disease (PD) in Ashkenazi Jewish population.
|
27814975 |
2017 |
rs120074126
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
|
12369017 |
2002 |
rs1319643225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among four NPD type A patients we found two homozygotes for the g.1421C > T (H319Y) and g.3714T > C (Y537H) mutations and two compound heterozygotes, one for the g.3337T > C (F463S) and g.3373C > T (P475L) mutations and the other for the g.84delC (G29fsX74) and g.1208A > C (S248R) mutations.
|
12556236 |
2003 |
rs182812968
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267607073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To elucidate the genetic heterogeneity of apoptotic induction in NPD cells, we investigated radiation-induced apoptosis of lymphoblasts in patients with type A (genotype: IVS3-2A-G/IVS3-2A-G) and type B (genotype: S436R/S436R) NPD.
|
12084440 |
2002 |
rs370129081
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For this purpose, we have used cultured Niemann-Pick disease (NPD) lymphoid cells with a defined mutation (R600H) in the aSMase protein.
|
9516458 |
1998 |
rs387906289
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs398123478
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a case of a 9-month infant with clinical manifestations intermediate between types A and B NPD and genetically illustrating a novel R542X mutation in the exon 6 of SMPD1.
|
23188845 |
2012 |
rs747342458
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
|
12369017 |
2002 |
rs749780080
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a consequence of either c.2T>G (p.M1_W32del) or c.96G>A (p.W32X), impaired translation from the first in-frame ATG results in a mild NPD-B phenotype instead of the severe phenotype expected for a complete deficiency of the enzyme, suggesting that when the first ATG is not functional, the second initiation codon (ATG33) still produces a fairly functional sphingomyelinase.
|
15241805 |
2004 |
rs750779804
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among four NPD type A patients we found two homozygotes for the g.1421C > T (H319Y) and g.3714T > C (Y537H) mutations and two compound heterozygotes, one for the g.3337T > C (F463S) and g.3373C > T (P475L) mutations and the other for the g.84delC (G29fsX74) and g.1208A > C (S248R) mutations.
|
12556236 |
2003 |
rs753508874
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among four NPD type A patients we found two homozygotes for the g.1421C > T (H319Y) and g.3714T > C (Y537H) mutations and two compound heterozygotes, one for the g.3337T > C (F463S) and g.3373C > T (P475L) mutations and the other for the g.84delC (G29fsX74) and g.1208A > C (S248R) mutations.
|
12556236 |
2003 |
rs786204506
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a consequence of either c.2T>G (p.M1_W32del) or c.96G>A (p.W32X), impaired translation from the first in-frame ATG results in a mild NPD-B phenotype instead of the severe phenotype expected for a complete deficiency of the enzyme, suggesting that when the first ATG is not functional, the second initiation codon (ATG33) still produces a fairly functional sphingomyelinase.
|
15241805 |
2004 |
rs797044797
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797044798
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|