title: TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia.
abstract: 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.
  
  
  METHODS
  We describe the phenotype of the pancreas and the kidneys from three fetuses heterozygous for a mutation of TCF2.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Obstetrics and Gynecology, CHU Rennes, Rennes, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Body-Bechou
authors.forename: Philippe
authors.initials: P
authors.lastname: Loget
authors.forename: Dominique
authors.initials: D
authors.lastname: D'Herve
authors.forename: Bernard
authors.initials: B
authors.lastname: Le Fiblec
authors.forename: Anne-Gaelle
authors.initials: AG
authors.lastname: Grebille
authors.forename: Hélène
authors.initials: H
authors.lastname: Le Guern
authors.forename: Caroline
authors.initials: C
authors.lastname: Labarthe
authors.forename: Margaret
authors.initials: M
authors.lastname: Redpath
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: Cabaret-Dufour
authors.forename: Odent
authors.initials: O
authors.lastname: Sylvie
authors.forename: Alice
authors.initials: A
authors.lastname: Fievet
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
authors.forename: Laurence
authors.initials: L
authors.lastname: Heidet
authors.forename: Sophie
authors.initials: S
authors.lastname: Taque
authors.forename: Poulain
authors.initials: P
authors.lastname: Patrice
mesh_terms: D000328:Adult; D003025:Clubfoot / Q000235:genetics; D005260:Female; D005865:Gestational Age; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D021782:Multicystic Dysplastic Kidney / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D016104:Oligohydramnios / Q000235:genetics; D010179:Pancreas / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D010641:Phenotype; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta