Maturity onset diabetes of the young type 3 (MODY3) is a consequence of heterozygous germline mutation in HNF1A. A subtype of hepatocellular adenoma (HCA) is also caused by biallelic somatic HNF1A mutations (H-HCA), and rare HCA may be related to MODY3.

Germline HNF1A mutations could be associated with different molecular subtypes of HCA. H-HCA showed mutations profoundly inactivating hepatocyte nuclear factor-1alpha function.

They are associated with a genotoxic signature suggesting a specific toxicant exposure that could be associated with genetic predisposition.

See also

 HNF1A

References

 Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage. Jeannot E, Mellottee L, Bioulac-Sage P, Balabaud C, Scoazec JY, Tran Van Nhieu J, Bacq Y, Michalak S, Buob D; Groupe d’étude Génétique des Tumeurs Hépatiques (INSERM Network), Laurent-Puig P, Rusyn I, Zucman-Rossi J. Diabetes. 2010 Jul;59(7):1836-44. PMID: 20393147 (Free)