TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia (pages 90–93)
Delphine Body-Bechou, Philippe Loget, Dominique D'Herve, Bernard Le Fiblec, Anne-Gaelle Grebille, Hélène Le Guern, Caroline Labarthe, Margaret Redpath, Anne-Sophie Cabaret-Dufour, Odent Sylvie, Alice Fievet, Corinne Antignac, Laurence Heidet, Sophie Taque and Poulain Patrice
Article first published online: 2 JAN 2014 | DOI: 10.1002/pd.4264
What's already known about this topic?
- TCF2 mutations are the leading cause of monogenic abnormal kidney development.
- The absence of genotype–phenotype correlations makes genetic counseling extremely difficult.
What does this study add?
- The first report of pancreatic agenesis associated with TCF2 mutation.
- Indicates the importance of visualizing the pancreas during ultrasound examinations if renal malformations are discovered.