Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A
نویسندگان
چکیده
منابع مشابه
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response
BACKGROUND Hepatocyte nuclear factor 4α (HNF4A) is a member of the nuclear receptor family of ligand-activated transcription factors. HNF4A mutations cause hyperinsulinaemic hypoglycaemia in early life and maturity-onset diabetes of the young. Regular screening of HNF4A mutation carriers using the oral glucose tolerance test has been recommended to diagnose diabetes mellitus at an early stage. ...
متن کامل[Novel glucokinase mutation in a boy with maturity-onset diabetes of the young].
INTRODUCTION Maturity-onset diabetes of the young (MODY) is a heterogenous group of disorders characterized by an early onset of insulin-independent diabetes mellitus, an autosomal dominant mode of inheritance and a primary defect in beta-cell. There are six subtypes of MODY. MODY2 and MODY3 are the most frequent. CASE OUTLINE We present a nine-year-old boy with intermittent hyperglycaemia. A...
متن کاملPersistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.
OBJECTIVE Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor (HNF)-4alpha are known to cause maturity-onset diabetes of the young (MODY), which is characterized by autosomal-dominant inheritance and impaired glucose-stimulated insulin secretion from pancreatic beta-cells. HNF-4alpha has a key role in regulating the multiple transcriptional factor networks in the islet. Rec...
متن کاملPersistent Hyperinsulinaemic Hypoglycaemia and Maturity Onset Diabetes of the Young (MODY) due to Heterozygous HNF4A Mutations
Objective: Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor 4 alpha (HNF-4α) are known to cause maturity-onset diabetes of the young (MODY), which is characterized by autosomal dominant inheritance and impaired glucose-stimulated insulin secretion from pancreatic ß-cells. HNF-4α has a key role in regulating the multiple transcriptional factor networks in the islet. Recen...
متن کاملMaturity onset diabetes of young type 2 due to a novel de novo GKC mutation.
Maturity Onset Diabetes of Young (MODY) is a heterogeneous group of monogenic disorders that result in β-cell dysfunction, with an estimated prevalence of 1%-2% in industrialized countries. MODY generally occurs in non-obese patients with negative autoantibodies presenting with mild to moderate hyperglycemia. The clinical features of the patients are heterogeneous, depending on the different ge...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2002
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.9050