|
rs1064797076
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs606231168
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs764260414
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137852973
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This report confirms the variability of clinical phenotypes associated with a BSCL2 Ser90Leu mutation and describes the first Italian family with this mutation.
|
20806400 |
2010 |
|
rs137852973
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The clinical patterns in this family include presentation with lower-limb and hand-muscle involvement early in the disease course as well as the presence of Babinski signs with nonprogressive mild spastic paraparesis, resembling classic Silver syndrome and dHMN type V. This study reaffirms the clinical phenotype of the disorders associated with a BSCL2 Ser90Leu mutation and describes a genetically proven family with Silver syndrome and dHMN type V in Asia.
|
17486577 |
2007 |
|
rs137852973
|
|
|
0.030 |
GeneticVariation |
BEFREE |
After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L.
|
14981520 |
2004 |
|
rs137852975
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
|
19041432 |
2009 |
|
rs137852975
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.
|
18057387 |
2007 |
|
rs57077886
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compared with other patients with APS, those with the heterozygous LMNA p.T10I mutation were younger in age but had increased prevalence of generalized lipodystrophy, diabetes mellitus, acanthosis nigricans, hypertriglyceridemia, and hepatomegaly, together with higher fasting serum insulin and triglyceride levels and lower serum leptin and high-density lipoprotein cholesterol levels.
|
29267953 |
2018 |
|
rs267607619
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The two siblings who presented with generalized lipodystrophy were diagnosed with an atypical progeroid syndrome with a p.D136H mutation in the LMNA gene (NM_005572).
|
26122271 |
2015 |
|
rs879254764
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ single-nucleotide polymorphisms with lipid and glycemic profiles of patients with Berardinelli-Seip syndrome.
|
25376908 |
2014 |
|
rs563539429
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also detected two novel mutations (Val67Met and Leu19Arg) in children with syndromic forms of diabetes like Berardinelli Seip syndrome [1-acyl-sn-glycerol-3-phosphate acyltransferase beta (AGPAT2)] and Fanconi Bickel syndrome [solute carrier family 2A2 (SLC2A2)].
|
22831748 |
2013 |
|
rs587783668
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also detected two novel mutations (Val67Met and Leu19Arg) in children with syndromic forms of diabetes like Berardinelli Seip syndrome [1-acyl-sn-glycerol-3-phosphate acyltransferase beta (AGPAT2)] and Fanconi Bickel syndrome [solute carrier family 2A2 (SLC2A2)].
|
22831748 |
2013 |
|
rs121434501
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous nonsense mutation (p.Glu38X) was identified in CAV1 in a patient with BSCL born from a consanguineous union.
|
18211975 |
2008 |
|
rs137852972
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L.
|
14981520 |
2004 |
|
rs121908093
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy.
|
12913070 |
2003 |
|
rs267607639
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy.
|
12913070 |
2003 |
|
rs58932704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy.
|
12913070 |
2003 |