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

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

10 Citations (Scopus)

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.

Original language	English
Journal	American Journal of Medical Genetics. Part A
Volume	161A
Issue number	12
Pages (from-to)	3191-5
Number of pages	5
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.36190
Publication status	Published - Dec 2013
Externally published	Yes

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10.1002/ajmg.a.36190

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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.",

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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.

UR - https://www.scopus.com/pages/publications/84888066181

U2 - 10.1002/ajmg.a.36190

DO - 10.1002/ajmg.a.36190

M3 - Journal article

C2 - 24254850

SN - 1552-4825

VL - 161A

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EP - 3195

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 12

ER -

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

Abstract

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