rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
|
23293579 |
2012 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
The results of our previous newborn screening, based on the carrier frequency of the two most common SLOS-causing mutations in Poland (p.W151X and p.V326L), would make SLOS one of the most frequent recessive disorders in our country (with an incidence of 1:2,300 - 1:3,937).
|
20556518 |
2010 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Mutations W151X and V326L accounted for 76% of the SLOS alleles in Slovak population.
|
19390132 |
2009 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
As reported before, the mutational spectra differed significantly between populations, and frequency peaks of common mutations were observed in North-West (c.964-1G>C), North-East (p.Trp151X, p.Val326Leu) and Southern Europe (p.Thr93Met).SLOS was virtually absent from Finland.
|
17965227 |
2008 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations.
|
16497572 |
2007 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
|
15670717 |
2005 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
|
15805162 |
2005 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
|
15521979 |
2004 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
W151X is the most frequent (0.33) mutation in Polish SLOS patients.
|
11175299 |
2001 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.
|
11078571 |
2000 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).
|
10995508 |
2000 |
rs11555217
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |