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Title: Compound-heterozygous Marfan syndrome.
Author(s): Dijk, F.S. Van; Hamel, B.C.J. ; Hilhorst-Hofstee, Y.; Mulder, B.J.; Timmermans, J. ; Pals, G. ; Cobben, J.M.
Publication year: 2009
Source: European Journal of Medical Genetics, vol. 52, iss. 1, (2009), pp. 1-5
ISSN: 1769-7212
DOI: https://doi.org/10.1016/j.ejmg.2008.11.004
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/81680   https://hdl.handle.net/2066/81680

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Subject: NCEBP 14: Cardiovascular diseases
Organization: Human Genetics
Cardiology
Former Organization: Radboud University Nijmegen Medical Centre
Journal title:
European Journal of Medical Genetics
Volume: vol. 52
Issue: iss. 1
Page start: p. 1
Page end: p. 5
Abstract:
We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family 1 has the R2726W FBN1 mutation associated with isolated skeletal features on one allele and a pathogenic FBN1 mutation on the other allele. The phenotype of the compound-heterozygous probands appears to be more severe than that of their heterozygous family members which underlines the possibility that certain trans-located FBN1 mutations might act as modifiers of phenotype explaining some of the intrafamilial variability in Marfan syndrome.

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