Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome

M. Godfrey, N. Vandemark, M. Wang, M. Velinov, D. Wargowski, P. Tsipouras, J. Han, J. Becker, W. Robertson, S. Droste, V. H. Rao

Research output: Contribution to journalArticlepeer-review

63 Scopus citations


The Marfan syndrome, an autosomal dominant connective tissue disorder, is manifested by abnormalities in the cardiovascular, skeletal, and ocular systems. Recently, fibrillin, an elastin-associated microfibrillar glycoprotein, has been linked to the Marfan syndrome, and fibrillin mutations in affected individuals have been documented. In this study, genetic linkage analysis with fibrillin specific markers was used to establish the prenatal diagnosis in an 11-wk-gestation fetus in a four-generation Marfan kindred. At birth, skeletal changes suggestive of the Marfan syndrome were observed. Reverse transcription-PCR amplification of the fibrillin gene mRNA detected a deletion of 123 bp in one allele in affected relatives. This deletion corresponds to an exon encoding an epidermal growth factor-like motif. Examination of genomic DNA showed a G→C transversion at the +1 consensus donor splice site.

Original languageEnglish (US)
Pages (from-to)472-480
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number2
StatePublished - Aug 1993

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome'. Together they form a unique fingerprint.

Cite this