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 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part A
Vol/bind	161A
Udgave nummer	12
Sider (fra-til)	3191-5
Antal sider	5
ISSN	1552-4825
DOI	https://doi.org/10.1002/ajmg.a.36190
Status	Udgivet - dec. 2013
Udgivet eksternt	Ja

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10.1002/ajmg.a.36190

Citationsformater

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title = "A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability",

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.",

author = "Maria Rasmussen and Mette Ramsing and Petersen, {Olav Bj{\o}rn} and Ida Vogel and Lone Sunde",

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year = "2013",

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doi = "10.1002/ajmg.a.36190",

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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.

U2 - 10.1002/ajmg.a.36190

DO - 10.1002/ajmg.a.36190

M3 - Journal article

C2 - 24254850

SN - 1552-4825

VL - 161A

SP - 3191

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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