References
Pearson ER, Boj SF, Steele AM, et al. Macrosomia and hyperinsu-linaemic hypoglycaemia in patients with heterozygous mutations in the HNF4a gene. PLoS Med 2007, 4: e118.
International Expert Committee. International Expert Committee report on the role of the A1C assay in the diagnosis of diabetes. Diabetes Care 2009, 32: 1327–34.
Fajans SS, Bell GI. Macrosomia and neonatal hypoglycemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4a (HNF4a). Diabetologia 2007, 50: 2600–1.
Conn JJ, Simm PJ, Oats JJN, et al. Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4a gene. Aust N Z J Obstet Gynaecol 2009, 49: 328–30.
Kapoor RR, Locke J, Colclough K, et al. Persistent hyperinsulinemic hypoglicemia and maturity-onset diabetes of the young due to heterozygous HNF4a mutations. Diabetes 2008, 57: 1659–63.
Flanagan SE, Kapoor RR, Mali G, et al. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol 2010, 162: 987–92.
Lindner T, Gragnoli C, Furuta H, et al. Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. J Clin Invest 1997, 100: 1400–5.
Pinney SE, MacMullen C, Becker S, et al. Clinical characteristics and biochemical mechanism of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest 2008, 118: 2877–86.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Colombo, C., Geraci, C., Suprani, T. et al. Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. J Endocrinol Invest 34, 252–253 (2011). https://doi.org/10.1007/BF03347074
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03347074