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: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36190
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36190-sec-0001" sec-type="section"> <p>MODY5, renal cysts, and diabetes syndrome are autosomal dominant entities caused by mutation in the <italic>HNF1B</italic> gene. Here we report two fetal siblings and their father who have a <italic>HNF1B</italic> 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.</p> </sec> </abstract>