Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome
- Univ. of Nebraska Medical Center, Omaha (United States)
- Univ. of Connecticut Health Sciences Center, Farmington (United States)
- 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), Vol. 53:2; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
62 RADIOLOGY AND NUCLEAR MEDICINE
CONNECTIVE TISSUE
HEREDITARY DISEASES
FETUSES
DIAGNOSTIC TECHNIQUES
GLYCOPROTEINS
GENE MUTATIONS
BIOLOGICAL MARKERS
DNA BASE TRANSITIONS
ANIMAL TISSUES
BODY
DISEASES
MUTATIONS
ORGANIC COMPOUNDS
PROTEINS
TISSUES
550400* - Genetics
550600 - Medicine