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Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2

Standard

Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. / Sheikhzadeh, S; Rybczynski, M; Habermann, C R; Bernhardt, A M J; Arslan-Kirchner, M; Keyser, B; Kaemmerer, H; Mir, T S; Staebler, A; Oezdal, N; Robinson, P N; Berger, J; Meinertz, T; von Kodolitsch, Y.

in: CLIN GENET, Jahrgang 79, Nr. 6, 06.2011, S. 568-574.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Sheikhzadeh, S, Rybczynski, M, Habermann, CR, Bernhardt, AMJ, Arslan-Kirchner, M, Keyser, B, Kaemmerer, H, Mir, TS, Staebler, A, Oezdal, N, Robinson, PN, Berger, J, Meinertz, T & von Kodolitsch, Y 2011, 'Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2', CLIN GENET, Jg. 79, Nr. 6, S. 568-574. https://doi.org/10.1111/j.1399-0004.2010.01494.x

APA

Sheikhzadeh, S., Rybczynski, M., Habermann, C. R., Bernhardt, A. M. J., Arslan-Kirchner, M., Keyser, B., Kaemmerer, H., Mir, T. S., Staebler, A., Oezdal, N., Robinson, P. N., Berger, J., Meinertz, T., & von Kodolitsch, Y. (2011). Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. CLIN GENET, 79(6), 568-574. https://doi.org/10.1111/j.1399-0004.2010.01494.x

Vancouver

Sheikhzadeh S, Rybczynski M, Habermann CR, Bernhardt AMJ, Arslan-Kirchner M, Keyser B et al. Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. CLIN GENET. 2011 Jun;79(6):568-574. https://doi.org/10.1111/j.1399-0004.2010.01494.x

Bibtex

@article{a8eadb4a30a8456da89c1353a380b49c,
title = "Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2",
abstract = "Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in the FBN1, TGFBR1 or TGFBR2 genes. Here, we assessed dural ectasia in 33 individuals both with typical manifestations of heritable connective tissue disease and in whom mutations in all three genes had been excluded. We identified 19 individuals with dural ectasia (58%), who exhibited major skeletal manifestations of the Marfan syndrome more frequently than the remaining 14 persons without dural ectasia (p = 0.06). Moreover, only persons with dural ectasia fulfilled clinical criteria of the Marfan syndrome (p = 0.01). Conversely, aortic aneurysm (12 patients; p = 0.8), aortic dissection (five patients; p = 0.1), spontaneous dissection of the carotid arteries (five patients; p = 1), and mitral valve prolapse (13 patients; p = 0.4) were similarly frequent irrespective of dural ectasia. We conclude that dural ectasia is a marker for connective tissue disease which coincides with skeletal rather than with cardiovascular manifestations, and which may involve currently uncharacterized pathogenetic mechanisms and syndromes.",
keywords = "Adolescent, Adult, Child, DNA Mutational Analysis, Diagnosis, Differential, Dilatation, Pathologic/diagnosis, Dura Mater/abnormalities, Female, Fibrillin-1, Fibrillins, Genetic Testing, Humans, Male, Marfan Syndrome/diagnosis, Microfilament Proteins/genetics, Middle Aged, Mutation, Protein-Serine-Threonine Kinases/genetics, Receptor, Transforming Growth Factor-beta Type I, Receptor, Transforming Growth Factor-beta Type II, Receptors, Transforming Growth Factor beta/genetics, Sinus of Valsalva/abnormalities, Young Adult",
author = "S Sheikhzadeh and M Rybczynski and Habermann, {C R} and Bernhardt, {A M J} and M Arslan-Kirchner and B Keyser and H Kaemmerer and Mir, {T S} and A Staebler and N Oezdal and Robinson, {P N} and J Berger and T Meinertz and {von Kodolitsch}, Y",
note = "{\textcopyright} 2010 John Wiley & Sons A/S.",
year = "2011",
month = jun,
doi = "10.1111/j.1399-0004.2010.01494.x",
language = "English",
volume = "79",
pages = "568--574",
journal = "CLIN GENET",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "6",

}

RIS

TY - JOUR

T1 - Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2

AU - Sheikhzadeh, S

AU - Rybczynski, M

AU - Habermann, C R

AU - Bernhardt, A M J

AU - Arslan-Kirchner, M

AU - Keyser, B

AU - Kaemmerer, H

AU - Mir, T S

AU - Staebler, A

AU - Oezdal, N

AU - Robinson, P N

AU - Berger, J

AU - Meinertz, T

AU - von Kodolitsch, Y

N1 - © 2010 John Wiley & Sons A/S.

PY - 2011/6

Y1 - 2011/6

N2 - Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in the FBN1, TGFBR1 or TGFBR2 genes. Here, we assessed dural ectasia in 33 individuals both with typical manifestations of heritable connective tissue disease and in whom mutations in all three genes had been excluded. We identified 19 individuals with dural ectasia (58%), who exhibited major skeletal manifestations of the Marfan syndrome more frequently than the remaining 14 persons without dural ectasia (p = 0.06). Moreover, only persons with dural ectasia fulfilled clinical criteria of the Marfan syndrome (p = 0.01). Conversely, aortic aneurysm (12 patients; p = 0.8), aortic dissection (five patients; p = 0.1), spontaneous dissection of the carotid arteries (five patients; p = 1), and mitral valve prolapse (13 patients; p = 0.4) were similarly frequent irrespective of dural ectasia. We conclude that dural ectasia is a marker for connective tissue disease which coincides with skeletal rather than with cardiovascular manifestations, and which may involve currently uncharacterized pathogenetic mechanisms and syndromes.

AB - Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in the FBN1, TGFBR1 or TGFBR2 genes. Here, we assessed dural ectasia in 33 individuals both with typical manifestations of heritable connective tissue disease and in whom mutations in all three genes had been excluded. We identified 19 individuals with dural ectasia (58%), who exhibited major skeletal manifestations of the Marfan syndrome more frequently than the remaining 14 persons without dural ectasia (p = 0.06). Moreover, only persons with dural ectasia fulfilled clinical criteria of the Marfan syndrome (p = 0.01). Conversely, aortic aneurysm (12 patients; p = 0.8), aortic dissection (five patients; p = 0.1), spontaneous dissection of the carotid arteries (five patients; p = 1), and mitral valve prolapse (13 patients; p = 0.4) were similarly frequent irrespective of dural ectasia. We conclude that dural ectasia is a marker for connective tissue disease which coincides with skeletal rather than with cardiovascular manifestations, and which may involve currently uncharacterized pathogenetic mechanisms and syndromes.

KW - Adolescent

KW - Adult

KW - Child

KW - DNA Mutational Analysis

KW - Diagnosis, Differential

KW - Dilatation, Pathologic/diagnosis

KW - Dura Mater/abnormalities

KW - Female

KW - Fibrillin-1

KW - Fibrillins

KW - Genetic Testing

KW - Humans

KW - Male

KW - Marfan Syndrome/diagnosis

KW - Microfilament Proteins/genetics

KW - Middle Aged

KW - Mutation

KW - Protein-Serine-Threonine Kinases/genetics

KW - Receptor, Transforming Growth Factor-beta Type I

KW - Receptor, Transforming Growth Factor-beta Type II

KW - Receptors, Transforming Growth Factor beta/genetics

KW - Sinus of Valsalva/abnormalities

KW - Young Adult

U2 - 10.1111/j.1399-0004.2010.01494.x

DO - 10.1111/j.1399-0004.2010.01494.x

M3 - SCORING: Journal article

C2 - 20662850

VL - 79

SP - 568

EP - 574

JO - CLIN GENET

JF - CLIN GENET

SN - 0009-9163

IS - 6

ER -