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Hepatocyte nuclear factor 1 alpha (HNF‐1α) mutations in maturity‐onset diabetes of the young
Author(s) -
Ellard Sian
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200011)16:5<377::aid-humu1>3.0.co;2-2
Subject(s) - biology , hepatocyte nuclear factors , maturity onset diabetes of the young , hepatocyte nuclear factor 4 , alpha (finance) , diabetes mellitus , maturity (psychological) , genetics , endocrinology , medicine , type 2 diabetes , gene , transcription factor , nuclear receptor , psychology , developmental psychology , construct validity , nursing , patient satisfaction
Maturity‐onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset (<25 years) and pancreatic βhyphen;cell dysfunction. MODY is genetically heterogeneous with five different genes identified to date: hepatocyte nuclear factor‐4 alpha ( HNF‐4α) [MODY1]; glucokinase [MODY2]; hepatocyte nuclear factor‐1 alpha ( HNF‐1α) [MODY3]; insulin promoter factor‐1 ( IPF‐1 ) [MODY4]; and hepatocyte nuclear factor‐1 beta ( HNF‐1β) [MODY5]. Mutations in the HNF‐1α gene represent a common cause of MODY in the majority of populations studied. Sixty‐five different mutations have been described in a total of 116 families. The most common mutation is a C‐insertion (P291fsinsC) in the polyC tract of exon 4, which has been reported in 22 families. The identification of an HNF‐1α gene mutation in a patient with type 2 diabetes confirms the diagnosis of MODY and has important implications for clinical management. Hum Mutat 16:377–385, 2000. © 2000 Wiley‐Liss, Inc.