Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome - PubMed (original) (raw)

Case Reports

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

M Godfrey et al. Am J Hum Genet. 1993 Aug.

Abstract

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.

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References

1. Prenat Diagn. 1981 Oct;1(4):241-7 - PubMed
1. Hum Mutat. 1992;1(5):366-74 - PubMed
1. Blood. 1987 Jul;70(1):147-51 - PubMed
1. Anal Biochem. 1987 Apr;162(1):156-9 - PubMed
1. Nucleic Acids Res. 1987 Sep 11;15(17):7155-74 - PubMed

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome - PubMed (original) (raw)