A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism
نویسندگان
چکیده
منابع مشابه
Molecular genetics, correlation between genotype and phenotype of 65 Vietnames patients with congenital hyperinsulinism
Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic b-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of the pancreatic b...
متن کاملClinical and molecular characterisation of 300 patients with congenital hyperinsulinism
BACKGROUND Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. AIM To characterise the clinical and molecular aspects of a large cohort of patients with CHI. METHODOLOGY Three hundred patients were recruited and clinical information was collected before genotypi...
متن کاملClinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
Recessive mutations of sulfonylurea receptor 1 (SUR1) and potassium inward rectifier 6.2 (Kir6.2), the two adjacent genes on chromosome 11p that comprise the beta-cell plasma membrane ATP-sensitive K(+) (K(ATP)) channels, are responsible for the most common form of congenital hyperinsulinism in children. The present study was undertaken to identify the genetic defect in a family with dominantly...
متن کاملA novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
BACKGROUND Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted. CASE This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her diagnostic evaluation included genetic studies, which confirmed congenital hyperinsulinism. A novel combination of mutations...
متن کامل[Hyperinsulinism in infancy and childhood: when an insulin level is not always enough].
Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperinsulinism (HI) is the most common cause of both transient and permanent disorders of hypoglycemia. HI is characterized by dysregulated insulin secretion, which results in persistent mild to severe hypoglycemia. The various forms of HI represent a group of clinically, genetically, an...
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عنوان ژورنال:
دوره 4 شماره
صفحات -
تاریخ انتشار 2017