A novel FBN1 variant in a large marfan family with high penetrance of aortic dissection or rupture

Maria Rasmussen; Steen Fjord Pedersen; Lone Sunde; Niels Holmmark Andersen; John R. Østergaard; Dorte L. Lildballe

A novel FBN1 variant in a large marfan family with high penetrance of aortic dissection or rupture

Maria Rasmussen^*, Steen Fjord Pedersen, Lone Sunde, Niels Holmmark Andersen, John R. Østergaard, Dorte L. Lildballe

^*Corresponding author for this work

Research output: Contribution to journal › Journal article › Research › peer-review

Abstract

INTRODUCTION: Marfan syndrome is an autosomal, dominantly inherited disorder of the connective tissue. We report the clinical data and results of a genetic analysis of a large Danish Marfan family.

METHODS AND MATERIAL: Sanger sequencing of FBN1 was initially performed on genomic DNA from the index patient. Subsequently, four affected family members and three nonaffected family members were tested for the variant identified in the index patient.

RESULTS: A novel variant (c.701G>T) in the FBN1 segregated with Marfan features in the family. CONCLUSION: In the majority of the family members, this novel variant seems to cause a uniform and very detrimental set of disease characteristics including fatal aortic dissection.

FUNDING: not relevant.

TRIAL REGISTRATION: not relevant.

Original language	English
Article number	A4949
Journal	Danish Medical Journal
Volume	61
Issue number	11
ISSN	1603-9629
Publication status	Published - 1 Nov 2014
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2014, Danish Medical Association. All rights reserved.

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title = "A novel FBN1 variant in a large marfan family with high penetrance of aortic dissection or rupture",

abstract = "INTRODUCTION: Marfan syndrome is an autosomal, dominantly inherited disorder of the connective tissue. We report the clinical data and results of a genetic analysis of a large Danish Marfan family.METHODS AND MATERIAL: Sanger sequencing of FBN1 was initially performed on genomic DNA from the index patient. Subsequently, four affected family members and three nonaffected family members were tested for the variant identified in the index patient.RESULTS: A novel variant (c.701G>T) in the FBN1 segregated with Marfan features in the family. CONCLUSION: In the majority of the family members, this novel variant seems to cause a uniform and very detrimental set of disease characteristics including fatal aortic dissection.FUNDING: not relevant.TRIAL REGISTRATION: not relevant.",

author = "Maria Rasmussen and Pedersen, {Steen Fjord} and Lone Sunde and Andersen, {Niels Holmmark} and {\O}stergaard, {John R.} and Lildballe, {Dorte L.}",

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T1 - A novel FBN1 variant in a large marfan family with high penetrance of aortic dissection or rupture

AU - Rasmussen, Maria

AU - Pedersen, Steen Fjord

AU - Sunde, Lone

AU - Andersen, Niels Holmmark

AU - Østergaard, John R.

AU - Lildballe, Dorte L.

PY - 2014/11/1

Y1 - 2014/11/1

N2 - INTRODUCTION: Marfan syndrome is an autosomal, dominantly inherited disorder of the connective tissue. We report the clinical data and results of a genetic analysis of a large Danish Marfan family.METHODS AND MATERIAL: Sanger sequencing of FBN1 was initially performed on genomic DNA from the index patient. Subsequently, four affected family members and three nonaffected family members were tested for the variant identified in the index patient.RESULTS: A novel variant (c.701G>T) in the FBN1 segregated with Marfan features in the family. CONCLUSION: In the majority of the family members, this novel variant seems to cause a uniform and very detrimental set of disease characteristics including fatal aortic dissection.FUNDING: not relevant.TRIAL REGISTRATION: not relevant.

AB - INTRODUCTION: Marfan syndrome is an autosomal, dominantly inherited disorder of the connective tissue. We report the clinical data and results of a genetic analysis of a large Danish Marfan family.METHODS AND MATERIAL: Sanger sequencing of FBN1 was initially performed on genomic DNA from the index patient. Subsequently, four affected family members and three nonaffected family members were tested for the variant identified in the index patient.RESULTS: A novel variant (c.701G>T) in the FBN1 segregated with Marfan features in the family. CONCLUSION: In the majority of the family members, this novel variant seems to cause a uniform and very detrimental set of disease characteristics including fatal aortic dissection.FUNDING: not relevant.TRIAL REGISTRATION: not relevant.

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M3 - Journal article

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AN - SCOPUS:84930751713

SN - 1603-9629

VL - 61

JO - Danish Medical Journal

JF - Danish Medical Journal

IS - 11

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ER -

A novel FBN1 variant in a large marfan family with high penetrance of aortic dissection or rupture

Abstract

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