TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia

Autor: Bernard Le Fiblec, Laurence Heidet, Margaret Redpath, Alice Fiévet, Anne-Sophie Cabaret-Dufour, Corinne Antignac, Dominique D'Hervé, Sophie Taque, Delphine Body-Bechou, Philippe Loget, Caroline Labarthe, Odent Sylvie, Hélène Le Guern, Poulain Patrice, Anne-Gaelle Grebille
Rok vydání: 2014
Předmět:
Zdroj: Prenatal Diagnosis. 34:90-93
ISSN: 0197-3851
Popis: Objective The aim of this study was to document the association between pancreatic agenesis or hypoplasia and multicystic renal dysplasia related to transcription factor 2 (TCF2) or hepatocyte nuclear factor 1 beta mutations. Methodology We describe the phenotype of the pancreas and the kidneys from three fetuses heterozygous for a mutation of TCF2. Cases Case 1 had bilateral hyperechogenic, multicystic kidneys, bilateral clubfoot and pancreatic agenesis. Case 2 had two enlarged polycystic kidneys, anamnios and pancreatic agenesis. Case 3 had multicystic renal dysplasia, oligohydramnios and hypoplasia of the tail of the pancreas. Conclusion TCF2 mutations are frequently discovered in fetuses presenting with bilateral hyperechogenic kidneys. The association between pancreatic agenesis and a TCF2 mutation has not previously been reported. TCF2 deficiency in mice leads to pancreatic agenesis, suggesting that the gene is essential for pancreatic development. Our observations indicate the importance of visualizing the pancreas during ultrasound examinations if renal malformations are discovered. © 2013 John Wiley & Sons, Ltd.
Databáze: OpenAIRE
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