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

Maurice Godfrey, Natalie Vandemark, Mei Wang, Milen Velinov, David Wargowski, Petros Tsipouras, Jenny Han, Joanne Becker, Wendy Robertson, Sabine Droste, Velidi H. Rao

Research output: Contribution to journalArticle

56 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)472-480
Number of pages9
JournalAmerican Journal of Human Genetics
Volume53
Issue number2
StatePublished - Jan 1 1993

Fingerprint

Marfan Syndrome
RNA Splice Sites
Prenatal Diagnosis
Mutation
Cardiovascular Abnormalities
Genetic Linkage
Elastin
Gene Amplification
Epidermal Growth Factor
Connective Tissue
Reverse Transcription
Exons
Fetus
Alleles
Parturition
Pregnancy
Polymerase Chain Reaction
Messenger RNA
Fibrillins
DNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Godfrey, M., Vandemark, N., Wang, M., Velinov, M., Wargowski, D., Tsipouras, P., ... Rao, V. H. (1993). Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. American Journal of Human Genetics, 53(2), 472-480.

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. / Godfrey, Maurice; Vandemark, Natalie; Wang, Mei; Velinov, Milen; Wargowski, David; Tsipouras, Petros; Han, Jenny; Becker, Joanne; Robertson, Wendy; Droste, Sabine; Rao, Velidi H.

In: American Journal of Human Genetics, Vol. 53, No. 2, 01.01.1993, p. 472-480.

Research output: Contribution to journalArticle

Godfrey, M, Vandemark, N, Wang, M, Velinov, M, Wargowski, D, Tsipouras, P, Han, J, Becker, J, Robertson, W, Droste, S & Rao, VH 1993, 'Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome', American Journal of Human Genetics, vol. 53, no. 2, pp. 472-480.
Godfrey M, Vandemark N, Wang M, Velinov M, Wargowski D, Tsipouras P et al. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. American Journal of Human Genetics. 1993 Jan 1;53(2):472-480.
Godfrey, Maurice ; Vandemark, Natalie ; Wang, Mei ; Velinov, Milen ; Wargowski, David ; Tsipouras, Petros ; Han, Jenny ; Becker, Joanne ; Robertson, Wendy ; Droste, Sabine ; Rao, Velidi H. / Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. In: American Journal of Human Genetics. 1993 ; Vol. 53, No. 2. pp. 472-480.
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