title: A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.
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.
authors.affiliation: Department of Clinical Genetics, Aahus University Hospital, Skejby, Aarhus, Denmark.
authors.forename: Maria
authors.initials: M
authors.lastname: Rasmussen
authors.forename: Mette
authors.initials: M
authors.lastname: Ramsing
authors.forename: Olav Bjørn
authors.initials: OB
authors.lastname: Petersen
authors.forename: Ida
authors.initials: I
authors.lastname: Vogel
authors.forename: Lone
authors.initials: L
authors.lastname: Sunde
mesh_terms: D037881:Aborted Fetus / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D001344:Autopsy; D002493:Central Nervous System Diseases / Q000235:genetics* / Q000503:physiopathology; D003743:Dental Enamel / Q000002:abnormalities* / Q000503:physiopathology; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007669:Kidney Calculi / Q000235:genetics / Q000503:physiopathology; D052177:Kidney Diseases, Cystic / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta
keywords: HNF1B; MODY5; fetus; kidney; renal cysts and diabetes syndrome