Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
FISH analysis on a previously reported case of familial AS confirmed a submicroscopic deletion including YACs corresponding to LS6-1, TD3-21 and GABRB3 and supports the separation of the PWS and AS critical regions.
|
1363801 |
1992 |
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deletion of this gene (GABRB3) was found in AS and PWS patients with interstitial cytogenetic deletions.
|
1714232 |
1991 |
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The gamma-aminobutyric acid (GABAA) receptor beta 3 (GABRB3) and alpha 5 (GABRA5) subunit genes have been localized to the Angelman and Prader-Willi syndrome region of chromosome 15q11-q13.
|
8188218 |
1994 |
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular analysis of patients with varying deletions has localized the AS locus to the interval between D15S113 and GABRB3 and the PWS locus between D15S13 and D15S113.
|
8188222 |
1994 |
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, D15S10, and GABRB3.
|
8882776 |
1996 |
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Four additional cases were confirmed by fluorescence in situ hybridization (FISH) study with D15S11, SNRPN, D15S10, and GABRB 3 [Prader-Willi syndrome (PWS)/AS region probes] (group II).
|
9044396 |
1997 |
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fluorescence in situ hybridization (FISH) using cosmid probes for SNRPN, D15S10, and GABRB3 for the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region were not present on the derived chromosome.
|
9128934 |
1997 |
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus.A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS.
|
9674903 |
1998 |
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deletion of SNRPN,TYAC 9 (at 15q11-12), TYAC19 (at 15q13) and GABRB3 (within the PWS locus), was evident on the derivative (22) chromosome, while TYAC10 (at 15q22), cos15-5 (at 15q22) and PML (15q22) were not deleted.
|
11164193 |
2001 |
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We characterized an Argentinean population, using five microsatellite markers (D15S1035, D15S11, D15S113, GABRB3, D15S211) chosen to develop an appropriate cost-effective method to establish the parental origin of chromosome 15 in nondeleted PWS patients.
|
16819717 |
2006 |
Prader-Willi Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Quantitative real-time RT-PCR analysis of PWS and AS samples with paternal and maternal 15q11-13 deletions revealed a paternal expression bias of GABRB3, while RTT brain samples showed a significant reduction in GABRB3 and UBE3A.
|
17339270 |
2007 |
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in AS and PWS.
|
28009282 |
2016 |