Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve

Ellison, Jay W.; Yagubyan, Marineh; Majumdar, Ramanath; Sarkar, Gobinda; Bolander, Mark E.; Atkinson, Elizabeth J.; Sarano, Maurice E.; Sundt, Thoralf M.

doi:10.1016/j.jss.2006.04.040

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Volume 142, Issue 1 , Pages 28-31, September 2007

Evidence of Genetic Locus Heterogeneity for Familial Bicuspid Aortic Valve

Jay W. Ellison, M.D., Ph.D.
- Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota
Marineh Yagubyan, M.D.
- Department of Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
Ramanath Majumdar, Ph.D.
- Division of Cardiovascular Surgery, Department of Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
Gobinda Sarkar, Ph.D.
- Department of Orthopedic Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
Mark E. Bolander, M.D.
- Department of Orthopedic Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
Elizabeth J. Atkinson, M.S.
- Department of Biostatistics, Mayo Clinic College of Medicine, Rochester, Minnesota
Maurice E. Sarano, M.D.
- Division of Cardiology, Department of Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota
Thoralf M. Sundt, M.D.
- Division of Cardiovascular Surgery, Department of Surgery, Mayo Clinic College of Medicine, Rochester, Minnesota
- To whom correspondence and reprint requests should be addressed at Mayo Clinic College of Medicine, Division of Cardiovascular Surgery, 200 First St. SW, Rochester, MN 55905.

Received 28 March 2006

Objective

We sought to determine if the gene responsible for bicuspid aortic valve (BAV) in an extended family corresponds to previously reported loci for inherited forms of the disorder.

Background

Loci at 15q25.1-26 and 9q34 have been reported to be associated with cardiovascular abnormalities involving BAV.

Methods

Linkage analysis was performed on DNA collected from a large multigenerational family in which BAV disease segregates in an autosomal dominant manner, using microsatellite markers from the regions previously reported to segregate with the phenotype.

Results

Lod scores were determined for genetic markers near the NOTCH1 gene and for a locus on chromosome 15q25.1-26 previously reported as being linked to BAV. The lod scores were negative or less than 1.0 for all markers tested.

Conclusions

There is no evidence of linkage of BAV in our pedigree to either the NOTCH1 gene or to the chromosome 15 locus. The disorder in this family appears to be caused by a gene at a novel locus.

Key Words: bicuspid aortic valve (BAV), genetics, cardiac surgery