HNF4A Mutations and Their Impact on Birthweight and Neonatal Hypoglycaemia
Author Information
Author(s): Ewan R. Pearson, Sylvia F. Boj, Anna M. Steele, Timothy Barrett, Karen Stals, Julian P. Shield, Sian Ellard, Jorge Ferrer, Andew T. Hattersley
Primary Institution: Peninsula Medical School, Exeter, United Kingdom
Hypothesis
Mutations in the HNF4A gene increase foetal insulin secretion, leading to higher birthweight and neonatal hypoglycaemia.
Conclusion
HNF4A mutations are associated with a considerable increase in birthweight and macrosomia, and are a novel cause of neonatal hypoglycaemia.
Supporting Evidence
- HNF4A-mutation carriers had a median birthweight increase of 790 g compared to non-mutation carriers.
- 56% of HNF4A-mutation carriers were macrosomic compared to 13% of non-mutation carriers.
- Transient hypoglycaemia was reported in 8 out of 54 infants with HNF4A mutations.
Takeaway
Babies with certain gene mutations can be much heavier than normal and may have low blood sugar right after birth.
Methodology
The study examined birthweight and hypoglycaemia in patients with HNF4A and HNF1A mutations, comparing them to unaffected family members.
Potential Biases
The retrospective nature of the study may lead to underreporting of hypoglycaemia cases.
Limitations
Data on birthweight and gestational age were primarily obtained by maternal recall, which may introduce bias.
Participant Demographics
108 patients with HNF4A mutations and 134 patients with HNF1A mutations from multiple families.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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