ArticleAmerican journal of human genetics1999
Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 37 citations in OpenAlex.
- Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort.Human genomics · 2026Article
- Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.Molecular syndromology · 2016Article
- A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.BioMed research international · 2016Review
- Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.International journal of clinical and experimental medicine · 2015Article
- Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.BMC medical genetics · 2014Article
- Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.BoneKEy reports · 2013Article
- Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.Molecular vision · 2011Article
- Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].European journal of human genetics : EJHG · 2010Article
- A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.Mammalian genome : official journal of the International Mammalian Genome Society · 2008Review
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. Almost all the identified FBN1mutations have been family specific, and the rate of new mutations is high. We report here a de novo FBN1mutation that was identified in two sisters with MFS born to clinically unaffected parents. The paternity and maternity were unequivocally confirmed by genotyping. Although one of the parents had to be an obligatory carrier for the mutation, we could not detect the mutation in the leukocyte DNA of either parent. To identify which parent was a mosaic for the mutation we analyzed several tissues from both parents, with a quantitative and sensitive solid-phase minisequencing method. The mutation was not, however, detectable in any of the analyzed tissues. Although the mutation could not be identified in a sperm sample from the father or in samples of multiple tissue from the mother, we concluded that the mother was the likely mosaic parent and that the mutation must have occurred during the early development of her germ-line cells. Mosaicism confined to germ-line cells has rarely been reported, and this report of mosaicism for the FBN1 mutation in MFS represents an important case, in light of the evaluation of the recurrence risk in genetic counseling of families with MFS.
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