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Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
|
23313286 |
2013 |
|
Cardiomyopathy, Familial Idiopathic
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Charcot-Marie-Tooth disease, Type 2B1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred.
|
10999845 |
2000 |
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
Interestingly her mother, with a history of myocardial infarction and diabetes at the age of 46 but no oligomenorrhoea, was also found to harbour the same mutation (LMNA R482Q).
|
26662654 |
2015 |
|
Diabetes Mellitus
|
|
0.020 |
GeneticVariation
|
BEFREE |
Interestingly her mother, with a history of myocardial infarction and diabetes at the age of 46 but no oligomenorrhoea, was also found to harbour the same mutation (LMNA R482Q).
|
26662654 |
2015 |
|
Diabetes Mellitus
|
|
0.020 |
GeneticVariation
|
BEFREE |
We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred.
|
10999845 |
2000 |
|
Dyslipidemias
|
|
0.020 |
GeneticVariation
|
BEFREE |
FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease.
|
11122771 |
2000 |
|
Dyslipidemias
|
|
0.020 |
GeneticVariation
|
BEFREE |
Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities.
|
11136544 |
2000 |
|
Emery-Dreifuss Muscular Dystrophy 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
She was subsequently found to have familial partial lipodystrophy (FPLD2, OMIM #151660) caused by an R482Q mutation in the LMNA gene encoding lamin A/C.
|
26662654 |
2015 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension.
|
23313286 |
2013 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three such point mutations, G465D (FPLD), R482L, (FPLD), or R527P (EDMD), were introduced by site-specific mutagenesis in the C-terminal tail domain of a FLAG-tagged full-length lamin A construct.
|
12729796 |
2003 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
We have localized a gene for FPLD to chromosome 1q21-q23, and it has recently been proposed that nuclear lamin A/C is altered in FPLD, on the basis of a novel missense mutation (R482Q) in five Canadian probands.
|
10739751 |
2000 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
DNA sequencing of LMNA in five Canadian FPLD probands indicated that each had a novel missense mutation, R482Q, which co-segregated with the FPLD phenotype and was absent from 2000 normal alleles ( P = 1.1 x 10(-13)).
|
10587585 |
2000 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analyzed the relationship between plasma leptin and the rare LMNA R482Q mutation in 23 adult FPLD subjects compared with 25 adult family controls with normal LMNA in an extended Canadian FPLD kindred.
|
10999791 |
2000 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
We studied 35 nondiabetic adult FPLD subjects (of whom 24 were women) with either the LMNA R482Q or R482W missense mutations and 51 matched normal first-degree relatives (of whom 27 were women).
|
12524233 |
2003 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the "hot spot" for FPLD.
|
20625965 |
2010 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Both sisters were found to be heterozygous for the R482Q mutation in the lamin A/C gene (LMNA) gene, establishing the definitive diagnosis as Dunnigan-type familial partial lipodystrophy complicated by severe insulin resistance and secondary PCOS.
|
18728124 |
2008 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy.
|
31836692 |
2020 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.
|
24485160 |
2014 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
|
12629077 |
2003 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
|
15372542 |
2004 |