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

Journal Article · Sun Aug 01 04:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6058111

Godfrey, M; Vandemark, N; Wang, M; Han, J; Rao, V H ^[1]; Velinov, M; Tsipouras, P ^[2]; Wargowski, D; Becker, J; Robertson, W; Droste, S ^[3]

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1. Univ. of Nebraska Medical Center, Omaha (United States)
2. Univ. of Connecticut Health Sciences Center, Farmington (United States)
3. Univ. of Wisconsin, Madison (United States)

The Marfan syndrome, an autosomal dominant connective tissue disorder, is manifested by abnormalities in the cardiovascular, skeletal, and ocular systems. Recently, fibrillin, an elastic-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[yields]C transversion at the +1 consensus donor splice site. 45 refs., 7 figs.

• OSTI ID: 6058111
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
550600 -- Medicine
59 BASIC BIOLOGICAL SCIENCES
62 RADIOLOGY AND NUCLEAR MEDICINE
ANIMAL TISSUES
BIOLOGICAL MARKERS
BODY
CONNECTIVE TISSUE
DIAGNOSTIC TECHNIQUES
DISEASES
DNA BASE TRANSITIONS
FETUSES
GENE MUTATIONS
GLYCOPROTEINS
HEREDITARY DISEASES
MUTATIONS
ORGANIC COMPOUNDS
PROTEINS
TISSUES