A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability

Maria Rasmussen; Mette Ramsing; Olav Bjørn Petersen; Ida Vogel; Lone Sunde

doi:10.1002/ajmg.a.36190

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability

Am J Med Genet A. 2013 Dec;161A(12):3191-5. doi: 10.1002/ajmg.a.36190. Epub 2013 Oct 29.

Authors

Maria Rasmussen¹, Mette Ramsing, Olav Bjørn Petersen, Ida Vogel, Lone Sunde

Affiliation

¹ Department of Clinical Genetics, Aahus University Hospital, Skejby, Aarhus, Denmark.

PMID: 24254850
DOI: 10.1002/ajmg.a.36190

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.

Keywords: HNF1B; MODY5; fetus; kidney; renal cysts and diabetes syndrome.

MeSH terms

Aborted Fetus / physiopathology*
Adolescent
Adult
Autopsy
Central Nervous System Diseases / genetics*
Central Nervous System Diseases / physiopathology
Dental Enamel / abnormalities*
Dental Enamel / physiopathology
Diabetes Mellitus, Type 2 / genetics*
Diabetes Mellitus, Type 2 / physiopathology
Exons
Female
Hepatocyte Nuclear Factor 1-beta / genetics*
Humans
Kidney Calculi / genetics
Kidney Calculi / physiopathology
Kidney Diseases, Cystic / genetics*
Kidney Diseases, Cystic / physiopathology
Male
Mutation, Missense / genetics
Pedigree
Phenotype
Pregnancy

Substances

HNF1B protein, human
Hepatocyte Nuclear Factor 1-beta

Supplementary concepts

Renal cysts and diabetes syndrome