TY - JOUR
T1 - A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability
AU - Rasmussen, Maria
AU - Ramsing, Mette
AU - Petersen, Olav Bjørn
AU - Vogel, Ida
AU - Sunde, Lone
PY - 2013/12
Y1 - 2013/12
N2 - 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.
AB - 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.
KW - Fetus
KW - HNF1B
KW - Kidney
KW - MODY5
KW - Renal cysts and diabetes syndrome
UR - http://www.scopus.com/inward/record.url?scp=84888066181&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36190
DO - 10.1002/ajmg.a.36190
M3 - Journal article
C2 - 24254850
AN - SCOPUS:84888066181
SN - 1552-4825
VL - 161
SP - 3191
EP - 3195
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 12
ER -