Entry - %607087 - AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2 - OMIM

 
ICD+
% 607087

AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2


Alternative titles; symbols

FAA2


Cytogenetic location: 5q13-q14     Genomic coordinates (GRCh38): 5:67,400,001-93,000,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5q13-q14 Aortic aneurysm, familial thoracic 2 607087 2
Phenotypic Series
 


▼ TEXT

For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see 607086.

▼ Mapping

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.


▼ REFERENCES

  1. 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, related citations] [Full Text]

  2. 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, related citations] [Full Text]


Contributors:
Marla J. F. O'Neill - updated : 2/24/2006
Creation Date:
Victor A. McKusick : 7/1/2002
Edit History:
carol : 10/13/2010
alopez : 6/24/2008
alopez : 2/24/2006
alopez : 2/24/2006
carol : 10/13/2004
joanna : 3/19/2004
alopez : 7/3/2002

% 607087

AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2


Alternative titles; symbols

FAA2


ORPHA: 91387;   DO: 14004;  


Cytogenetic location: 5q13-q14     Genomic coordinates (GRCh38): 5:67,400,001-93,000,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5q13-q14 Aortic aneurysm, familial thoracic 2 607087 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of familial thoracic aortic aneurysm, see 607086.

Mapping

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.


REFERENCES

  1. 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]

  2. 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]


Contributors:
Marla J. F. O'Neill - updated : 2/24/2006

Creation Date:
Victor A. McKusick : 7/1/2002

Edit History:
carol : 10/13/2010
alopez : 6/24/2008
alopez : 2/24/2006
alopez : 2/24/2006
carol : 10/13/2004
joanna : 3/19/2004
alopez : 7/3/2002



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 26, 2024