|
Maturity-Onset Diabetes of the Young, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
|
17407387 |
2007 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).
|
10389854 |
1999 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.
|
9243109 |
1997 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.
|
9313765 |
1997 |
|
Maturity-Onset Diabetes of the Young, Type 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
For example, the HNF4A c.340C>T (p.Arg114Trp) (GenBank: NM_175914.4) variant associated with diabetes is <10% penetrant by the time an individual is 40 years old.
|
30665703 |
2019 |
|
Diabetes Mellitus
|
|
0.020 |
GeneticVariation
|
BEFREE |
For example, the HNF4A c.340C>T (p.Arg114Trp) (GenBank: NM_175914.4) variant associated with diabetes is <10% penetrant by the time an individual is 40 years old.
|
30665703 |
2019 |
|
Diabetes Mellitus
|
|
0.020 |
GeneticVariation
|
BEFREE |
We confirm that p.R114W is a pathogenic mutation with an odds ratio of 30.4 (95% CI 9.79-125, P = 2 × 10(-21)) for diabetes in our MODY cohort compared with control subjects. p.R114W heterozygotes did not have the increased birth weight of patients with other HNF4A mutations (3,476 g vs. 4,147 g, P = 0.0004), and fewer patients responded to sulfonylurea treatment (48% vs. 73%, P = 0.038). p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes by age 30 years compared with 71% for other HNF4A mutations.
|
27486234 |
2016 |
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
We confirm that p.R114W is a pathogenic mutation with an odds ratio of 30.4 (95% CI 9.79-125, P = 2 × 10(-21)) for diabetes in our MODY cohort compared with control subjects. p.R114W heterozygotes did not have the increased birth weight of patients with other HNF4A mutations (3,476 g vs. 4,147 g, P = 0.0004), and fewer patients responded to sulfonylurea treatment (48% vs. 73%, P = 0.038). p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes by age 30 years compared with 71% for other HNF4A mutations.
|
27486234 |
2016 |
|
Maturity onset diabetes mellitus in young
|
|
0.010 |
GeneticVariation
|
BEFREE |
We redefine p.R114W</span> as a pathogenic mutation that causes a distinct clinical subtype of HNF4A MODY with reduced penetrance, reduced sensitivity to sulfonylurea treatment, and no effect on birth weight.
|
27486234 |
2016 |
|
Monogenic diabetes
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.
|
27486234 |
2016 |