Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Case 2: A 1-month-old boy with diazoxide-unresponsive CHI due to a paternal heterozygous KCNJ11 gene mutation was partially responsive to octreotide.
|
30114684 |
2019 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hotspot mutations such as T1042Qfs*75, I1511K, E501K, G111R in ABCC8 gene, and R34H in KCNJ11 gene are predominantly responsible for Chinese CHI patients.
|
31218401 |
2019 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This report describes six novel missense variants in ABCC8 and KCNJ11 that were identified in 11 probands with congenital HI.
|
31464105 |
2019 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation.
|
29176012 |
2018 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
More than half of the diazoxide-unresponsive CHI detected mutations are in ABCC8 and KCNJ11 genes.
|
28270372 |
2017 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes, whilst loss-of-function mutations in these genes result in congenital hyperinsulinism.
|
28663158 |
2017 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study is the first report of a novel form of late-onset PHHI that is caused by a dominant mutation in KCNJ11 and exhibits a defect in proper surface expression of Kir6.2.
|
29087246 |
2017 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types.
|
28740482 |
2017 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As a model, we used a patient with transient CHI that paternally inherited novel heterozygous mutations in ABCC8 (p.Tyr1293Asp) and KCNJ11 (p.Arg50Trp) genes.
|
29127764 |
2017 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
For 50 years, diazoxide, a KATP channel agonist, has been the primary drug for infants with HI; however, it is ineffective in most cases with mutations of ABCC8 or KCNJ11, which constitute the majority of infants with monogenic HI.
|
26908106 |
2016 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.
|
27173951 |
2016 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present a novel homozygous p.F315I mutation in the KCNJ11 gene leading to diazoxide-unresponsive CHI in a neonate.
|
27181099 |
2016 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI.
|
26316440 |
2015 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive and dominant mutations in ABCC8/KCNJ11 are the commonest cause of medically unresponsive CHI.
|
25733449 |
2015 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The ABCC8 and KCNJ11 genes were analyzed in 3 patients with focal CHI and in 1 patient with diffuse CHI.
|
25765446 |
2015 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCC8 and KCNJ11 are the commonest causes of CHI in Turkish patients (48.6%).
|
24686051 |
2014 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Congenital hyperinsulinemic hypoglycemia (HI) is a heterogeneous genetic disorder of insulin secretion characterized by persistent hypoglycemia, most commonly associated with inactivating mutations of the β-cell ATP-sensitive K(+) channel (K(ATP) channel) genes ABCC8 (encoding SUR1) and KCNJ11(encoding Kir6.2).
|
25117148 |
2014 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Paternally inherited monoallelic mutations of ABCC8 and KCNJ11 are likely the main causes of KATP-CHI in Chinese patients.
|
25008049 |
2014 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Paternally inherited heterozygous ABCC8/KCNJ11 mutations can manifest as a wide spectrum of CHI with variable 18F DOPA-PET CT/histological findings and clinical outcomes.
|
25201519 |
2014 |
Congenital Hyperinsulinism
|
0.700 |
Biomarker
|
disease |
BEFREE |
This study expands the phenotype associated with KCNJ11 loss of function in humans and calls for increased awareness of rhabdomyolysis as a potential late-onset life-threatening complication of KCNJ11-related congenital hyperinsulinism.
|
24421282 |
2014 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer of sulfonylurea in a mother with KCNJ11-related neonatal diabetes.
|
25231897 |
2014 |
Congenital Hyperinsulinism
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes ABCC8/KCNJ11, encoding SUR1/Kir6.2 components of the K(ATP) channels, respectively, are the commonest cause of CHI.
|
23563683 |
2013 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the KATP channel genes KCNJ11 and ABCC8 cause neonatal hyperinsulinism in humans.
|
23903354 |
2013 |
Congenital Hyperinsulinism
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide.
|
20686794 |
2013 |