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

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.