A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability. Issue 12 (29th October 2013)

• Record Type: Journal Article
• Authors: Rasmussen, Maria; Ramsing, Mette; Petersen, Olav Bjørn; Vogel, Ida; Sunde, Lone
• Is Part Of: American journal of medical genetics. Volume 161:Issue 12(2013:Dec.)
• Page Start: 3191
• Page End: 3195
• Publication Date: 2013-10-29
• Subjects: HNF1B -- renal cysts and diabetes syndrome -- MODY5 -- kidney -- fetus; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36190
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : MODY5, renal cysts, and diabetes syndrome are autosomal dominant entities caused by mutation in the HNF1B gene. Here we report two fetal siblings and their father who have a HNF1B missense mutation and describe the fetal phenotype associated with mutation in this gene. To the best of our knowledge two non‐twin siblings with a missense mutation and a severe phenotype have not been reported previously. © 2013 Wiley Periodicals, Inc.