Erschienen in:
01.12.2007 | Research Letter
Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4α (HNF4A)
verfasst von:
S. S. Fajans, G. I. Bell
Erschienen in:
Diabetologia
|
Ausgabe 12/2007
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Excerpt
To the Editor: In a recent publication, Pearson et al. [
1] reported on a previously unrecognised feature of the natural history of the type 1 form of maturity onset diabetes of the young (MODY1), which is caused by mutations in the gene encoding hepatocyte nuclear factor 4α (
HNF4A). In a comparison of 54 mutation carriers (from 15 European pedigrees and with 12 different mutations) with their unaffected family members, they found a significant increase in median birthweight (790 g) with a 56% prevalence of macrosomia compared with 13% in family members without mutations. Macrosomia was inherited from either mother or father (64 and 46% of total cases, respectively). Transient neonatal hypoglycaemia was reported in eight of 54 neonates, three of whom had documented hyperinsulinaemia as infants. Similar observations were made in a mouse model with a beta cell-specific
Hnf4a deletion [
1]. …
