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A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability
Author(s) -
Rasmussen Maria,
Ramsing Mette,
Petersen Olav Bjørn,
Vogel Ida,
Sunde Lone
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36190
Subject(s) - hnf1b , missense mutation , mutation , phenotype , genetics , disease , biology , fetus , gene , medicine , pregnancy , homeobox , gene expression
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. © 2013 Wiley Periodicals, Inc.