European journal of medical genetics, 2009-01, Vol.52 (1), p.1-5
2009
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Details
- Autor(en) / Beteiligte
- Titel
- Compound-heterozygous Marfan syndrome
- Ist Teil von
- European journal of medical genetics, 2009-01, Vol.52 (1), p.1-5
- Ort / Verlag
- Amsterdam: Elsevier Masson SAS
- Erscheinungsjahr
- 2009
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1769-7212eISSN: 1878-0849DOI: 10.1016/j.ejmg.2008.11.004Titel-ID: cdi_proquest_miscellaneous_66808985
- Format
- –
- Schlagworte
- Alleles, Biological and medical sciences, Compound heterozygous, Family Health, FBN1 mutation, Female, Fibrillin-1, Fibrillins, Fundamental and applied biological sciences. Psychology, General aspects. Genetic counseling, Genetics of eukaryotes. Biological and molecular evolution, Heterozygote, Humans, Male, Marfan syndrome, Marfan Syndrome - genetics, Medical Education, Medical genetics, Medical sciences, Microfilament Proteins - genetics, Musculoskeletal Abnormalities - genetics, Mutation, Missense, Pedigree, Phenotype, Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis, Young Adult