Linkage analysis in Marfan syndrome.

Linkage analysis in Marfan syndrome.

We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus.

Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.

Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability. Although mutations in the FBN1 gene have been recognized as the cause of the disease, more recently other loci have been associated with MFS, indicating the genetic heterogeneity of this disease. We addressed the issue of...

DIFFUSE ARTER IAL ECTASIA IN MARFAN SYNDROME

A 22 year old male referred with palpitation. General appearance and physical exam impressed us in that the patient has Marfan syndrome. Cardiac catheterization showed diffuse arterial ectasia. We found no previous report of this generalized diffuse ectasia.

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

Marfan syndrome consists of a group of dominantly inherited disorders of connective tissue with wide clinical variability. Using the candidate gene approach, we have attempted to map the gene defect in a large French Marfan syndrome family with no ocular manifestations. We performed linkage studies with polymorphic probes for five structural procollagen genes. The data obtained exclude linkage ...

Marfan syndrome.