A Description of a Fetal Syndrome Associated With HNF1B Mutation and a Wide Intrafamilial Disease Variability

作者：Rasmussen Maria^*; Ramsing Mette; Petersen Olav Bjorn; Vogel Ida; Sunde Lone

来源：American Journal of Medical Genetics, Part A, 2013, 161(12): 3191-3195.

DOI：10.1002/ajmg.a.36190

• HNF1B
• renal cysts and diabetes syndrome
• MODY5
• kidney
• fetus

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.

• 出版日期2013-12