Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.

Ni Chung Lee*, Betau Hwang, Chia Hsiang Chen, Dau Ming Niu

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

3 Scopus citations

Abstract

Marfan syndrome is an autosomal dominant fibrillinopathy caused by mutations of the fibrillin-1 (FBN1) gene. Although linkage analysis is often required to ascertain the disease status in family members, recombination is a problem. We analyzed 6 families including 18 patients using 4 intragenic microsatellite markers, located in intron 1, 5, 28, and 43, respectively, of the FBN1 gene. Haplotypes in all family members could be established, and segregation analysis showed no recombination between the markers and the disease. After confirming the diagnosis, intrafamilial analysis revealed clinical manifestations involving the ocular, cardiac, and skeletal systems. Intragenic linkage analysis in Marfan syndrome is very helpful in its diagnosis and management within affected families.

Original languageEnglish
Pages (from-to)964-967
Number of pages4
JournalJournal of the Formosan Medical Association
Volume104
Issue number12
StatePublished - 12 2005
Externally publishedYes

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