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

Autor: Body-Bechou, Delphine, Loget, Philippe, d'Herve, Dominique, Le Fiblec, Bernard, Grebille, Anne-Gaelle, Le Guern, Hélène, Labarthe, Caroline, Redpath, Margaret, Cabaret-Dufour, Anne-Sophie, Odent, Sylvie, Fievet, Alice, Antignac, Corinne, Heidet, Laurence, Taque, Sophie, Patrice, Poulain
Přispěvatelé: Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], Clinique mutualiste La Sagesse, Centre Pluridisciplinaire de Diagnostic Prénatal, Centre hospitalier Saint-Brieuc, Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Néphropathies héréditaires et rein en développement (UMR_S 983), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Néphrologie Pédiatrique, AP-HP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Service d'Hématologie et d'Oncologie pédiatrique, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Zdroj: Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2014, 34 (1), pp.90--93. ⟨10.1002/pd.4264⟩
Prenatal Diagnosis, 2014, 34 (1), pp.90--93. ⟨10.1002/pd.4264⟩
ISSN: 0197-3851
1097-0223
Popis: International audience; 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.
Databáze: OpenAIRE
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