notch1 gene mutation

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MrP

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Dec 11, 2005
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For those interested, here's a link to an interesting article about research to identify the gene associated with bicuspid aortic valve disease. Researches at UT Southwestern Medical Center in Dallas reported in July 2005 they discovered a mutation in a gene called notch1 results in aortic valve disease, including bav. Family screening from blood tests may be possible in the not too distant future!

http://www.utsouthwestern.edu/utsw/cda/dept37389/files/232826.html
 
fascinating stuff Preston...


thanks for the info...

I am also of the belief that the next 5-10 years will yield even more fantastic news in the knowledge of BAVD...
especially as our kids begin to reproduce :eek:

they better ask me first though before making me a grannie!:D

I am almost certain I will score a BAV grandkid or two out of these 3 boys...it would be a miracle if I dont....so we will have 3 generations of BAVers to offer up for study!:p ;) .
 
I am certainly glad the genetics of BAV are being studied. A complete understanding could result in early identification and lifesaving genetic therapies one day.

That said, when I mentioned this Notch1 study to the Geneticist/Cardiologist I saw to rule out Marfan Syndrome, she said, "Oh Deepak finally got someone to publish that?" I got the distinct impression that he got Nature to publish it because the cardiac and/or medical peer-reviewed journals wouldn't for whatever reason. I just wouldn't be surprised if the study is not generally accepted by the medical community. If the study spurs someone else to relocate the gene or confirm its location using a better study published in JAMA or some other real medical journal, we all win.
 
Thanks for the article. Very interesting.

If there is anyone in the Seattle, or extended NW area who would like to participate in a family study on heritablity, please PM me. Thanks to KarenAM, I have become involved with such a study out of Univ of Washington Medical Center and the local Children's Hospital. A little paperwork, a free echo, no real monetary compensation (parking, etc. only).

(Sorry to hijack your thread!)

Marguerite
 
bav with aortic aneurysm linked to chromosone 15q

bav with aortic aneurysm linked to chromosone 15q

Here's another interesting article below .... this one from the American Journal of Human Genetics and by distinquished researchers. Indeed, genetic factors contribute to the development of thoracic aortic aneurysms and bav.



Linkage of Familial Bicuspid Aortic Valve with Aortic Aneurysm to Chromosome 15q. D.L. Goh1,2, L.F Han1, D.P. Judge1, J.A. Geutbner1, I. McIntosh1, A. Patel3, G.H. Thomas3, C.T. Basson4, D.M. Milewicz5, H.C. Dietz1,6. 1) Johns Hopkins University School of Medicine, Baltimore, MD; 2) National University of Singapore, Singapore; 3) Kennedy Krieger Institute, Baltimore, MD; 4) Weill Medical College of Cornell University, New York, NY; 5) University of Texas-Houston Medical School, Houston, TX; 6) Howard Hughes Medical Institute.

Bicuspid aortic valve (BAV) is the most common congenital heart malformation, with an estimated incidence of 1%. BAV can be associated with ascending aortic aneurysm (AscAA), historically attributed to hemodynamic perturbation caused by valve malformation. Comprehensive evaluation of multiple pedigrees segregating BAV with AscAA revealed a high incidence of individuals with AscAA alone, suggesting that BAV and AscAA are both primary manifestations of a single gene defect with variable expression. BAV/AscAA segregates as an autosomal dominant trait with incomplete penetrance and wide variation in the age of onset of aortic enlargement, ranging from infancy to mid-adult life. Maximal enlargement of the aorta frequently occurs above the sinotubular junction, distinguishing BAV/AscAA from Marfan syndrome or previously reported forms of familial AscAA. We identified a patient with multiple congenital anomalies that included BAV, AscAA, sensorineural hearing loss, growth failure, developmental delay and dysmorphic facies. This was associated with a de novointerstitial deletion [46,XX,del(15)(q25q26.1)] spanning 7Mb, as mapped by FISH and loss of heterozygosity. This suggested that a gene for BAV/AscAA maps within this critical interval. Ten multiplex families segregating BAV/AscAA were genotyped with polymorphic markers spanning the deleted interval and nine were consistent with linkage to this region of chromosome 15q with a maximum single-point LOD score of 3.60. These data mandate periodic echocardiographic follow-up of all first-degree relatives of individuals with BAV/AscAA including those without valve malformation. Further refinement of this locus and identification of the gene(s) responsible for BAV/AscAA will allow molecular assignment of risk and provide important insight regarding the molecular determinants of aortic wall homeostasis.
 
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