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Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene

✍ Scribed by Putnam, Elizabeth A.; Cho, Mimi; Zinn, Arthur B.; Towbin, Jeffrey A.; Byers, Peter H.; Milewicz, Dianna M.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
80 KB
Volume
62
Category
Article
ISSN
0148-7299

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✦ Synopsis

Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein. While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBNl gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene. We screened 8 patients with either neonatal Marfan syndrome or severe cardiovascular complications of Marfan syndrome for mutations in this region of the gene. Using intron-based exon-specific primers, we amplified exons 23-32 from genomic DNAs, screened these fragments by single-stranded conformational polymorphism analysis, and sequenced indicated exons. This analysis documented mutations in exons 25-27 of the FBNl gene in 6 of these patients. These results, taken together with previously published FBNl mutations in this region, further define the phenotype associated with mutations in exons 24-32 of the FBNl gene, information important for the development of possible diagnostic tests and genetic counseling. 0 1996 Wiley-Liss, h e .

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