Abstract
[This corrects the article on p. 400 in vol. 8, PMID: 28659821.].
Highlights
The SMAD6 c.726del variant leads to a frameshift (p.Lys242Asnfs∗300) and a predicted protein with a Cterminal extension due to loss of the intended stop codon
For two SMAD6 mutation carriers (P89, p.Gly271Glu; P99, p.Pro152Profs∗27), gDNA of family members was available for segregation analysis (Supplementary Figure 1)
Neither of these probands had a documented family history of BAV/TAA, a brother of P89 has been diagnosed with a sinus of Valsalva aneurysm (45 mm) and carried the SMAD6 mutation
Summary
Kumar 1†, Ilse Luyckx 1, Christoph Preuss 2, Elyssa Cannaerts 1, Gerarda van de Beek 1, Björn Wieschendorf 1, 3, Maaike Alaerts 1, Nikhita Bolar 1, Geert Vandeweyer 1, Josephina Meester 1, Florian Wünnemann 2, Russell A. A corrigendum on Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor by Gillis, E., Kumar, A. A., Luyckx, I., Preuss, C., Cannaerts, E., van de Beek, G., et al (2017).
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