Alternative titles; symbols
ORPHA: 91387; DO: 14004;
Cytogenetic location: 5q13-q14 Genomic coordinates (GRCh38) : 5:67,400,001-93,000,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5q13-q14 | Aortic aneurysm, familial thoracic 2 | 607087 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see 607086.
Guo et al. (2001) reported a number of families with clear autosomal dominant inheritance of thoracic aneurysms and dissections. In 2 large families, linkage to FBN1 (134797) was excluded prior to a genomewide linkage analysis. Three loci showed a significant association with the disease. Subsequent multipoint analyses using a total of 15 families revealed a maximum lod score of 4.74 (theta = 0.0) at marker D5S2029, and haplotype analyses refined the disease interval to a 7.8-cM region between D5S806 and D5S641 at chromosome 5q13-q14. Candidate genes mapping to this interval were screened for mutations, but none were identified. Overall, of the 15 families included in the study, 9 showed linkage to this locus. A further family demonstrated evidence of linkage to chromosome 11q, although this could not be confirmed owing to a lack of affected family members.
Kakko et al. (2003) genotyped 115 members of 11 Finnish families segregating thoracic aortic aneurysms and dissections and confirmed linkage to 5q13-q14.
Guo, D., Hasham, S., Kuang, S.-Q., Vaughan, C. J., Boerwinkle, E., Chen, H., Abuelo, D., Dietz, H. C., Basson, C. T., Shete, S. S., Milewicz, D. M. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 103: 2461-2468, 2001. [PubMed: 11369686] [Full Text: https://doi.org/10.1161/01.cir.103.20.2461]
Kakko, S., Raisanen, T., Tamminen, M., Airaksinen, J., Groundstroem, K., Juvonen, T., Ylitalo, A., Uusimaa, P., Savolainen, M. J. Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families. J. Thorac. Cardiovasc. Surg. 126: 106-113, 2003. [PubMed: 12878945] [Full Text: https://doi.org/10.1016/s0022-5223(03)00037-0]