TY - JOUR
T1 - Corrigendum: Candidate gene resequencing in a large bicuspid aortic valve-associated thoracic aortic aneurysm cohort: SMAD6 as an important contributor [Front. Physiol, 8, (2017) (400)] doi: 10.3389/fphys.2017.00400
AU - MIBAVA Leducq Consortium
AU - Gillis, Elisabeth
AU - Kumar, Ajay A.
AU - Luyckx, Ilse
AU - Preuss, Christoph
AU - Cannaerts, Elyssa
AU - van de Beek, Gerarda
AU - Wieschendorf, Björn
AU - Alaerts, Maaike
AU - Bolar, Nikhita
AU - Vandeweyer, Geert
AU - Meester, Josephina
AU - Wünnemann, Florian
AU - Gould, Russell A.
AU - Zhurayev, Rustam
AU - Zerbino, Dmytro
AU - Mohamed, Salah A.
AU - Mital, Seema
AU - Mertens, Luc
AU - Björck, Hanna M.
AU - Franco-Cereceda, Anders
AU - McCallion, Andrew S.
AU - Van Laer, Lut
AU - Verhagen, Judith M.A.
AU - van de Laar, Ingrid M.B.H.
AU - Wessels, Marja W.
AU - Messas, Emmanuel
AU - Goudot, Guillaume
AU - Nemcikova, Michaela
AU - Krebsova, Alice
AU - Kempers, Marlies
AU - Salemink, Simone
AU - Duijnhouwer, Toon
AU - Jeunemaitre, Xavier
AU - Albuisson, Juliette
AU - Eriksson, Per
AU - Andelfinger, Gregor
AU - Dietz, Harry C.
AU - Verstraeten, Aline
AU - Loeys, Bart L.
N1 - Publisher Copyright:
© 2017 Gillis, et al.
PY - 2017/9/25
Y1 - 2017/9/25
N2 - In the original article, we noted two mutation annotation errors. The correction of these two mistakes does not change the scientific conclusions in any way. The authors apologize for these nomenclature errors. Please find below the corrected annotations of those two mutations: (1) The correct RNA and protein annotations of the SMAD6 variant in P99 are c.455_461del and p.Pro152Profs*27, and not c.454_461del and p.Gly166Valfs*23. (2) The correct RNA and protein annotations of the SMAD6 variant in P128 are c.74_79del and p.Ser27_Gly28del, and not c.73_79del and p.Gly26_Ser27del. As a consequence, a correction has been made to RESULTS, Paragraphs 5 and 6: The SMAD6 c.726del variant leads to a frameshift (p.Lys242Asnfs*300) and a predicted protein with a C-terminal extension due to loss of the intended stop codon. The c.455_461del frameshift variant (p.Pro152Profs*27) causes the introduction of a premature stop codon, most likely resulting in haploinsufficiency due to nonsense-mediated mRNA decay (NMD). Also the two nonsense variants (p.Tyr279* and p.Tyr288*) are predicted to lead to NMD. All of the missense variants cluster in the functionally important MH1 and MH2 domains (Makkar et al., 2009) (amino acids 148-275 and 331-496, respectively), which is not the case for the sole missense variant (p.Ser130Leu) found in a control individual (Figure 2). All but one (p.Arg443His) of the identified variants were absent in the ExAC control cohort (v0.3.1; Supplementary Table 2). Moreover, the missense variants in the patient cohort (7/7) are enriched in the MH1 and MH2 domains when compared to ExAC controls (n = 228/430; p = 0.02).
AB - In the original article, we noted two mutation annotation errors. The correction of these two mistakes does not change the scientific conclusions in any way. The authors apologize for these nomenclature errors. Please find below the corrected annotations of those two mutations: (1) The correct RNA and protein annotations of the SMAD6 variant in P99 are c.455_461del and p.Pro152Profs*27, and not c.454_461del and p.Gly166Valfs*23. (2) The correct RNA and protein annotations of the SMAD6 variant in P128 are c.74_79del and p.Ser27_Gly28del, and not c.73_79del and p.Gly26_Ser27del. As a consequence, a correction has been made to RESULTS, Paragraphs 5 and 6: The SMAD6 c.726del variant leads to a frameshift (p.Lys242Asnfs*300) and a predicted protein with a C-terminal extension due to loss of the intended stop codon. The c.455_461del frameshift variant (p.Pro152Profs*27) causes the introduction of a premature stop codon, most likely resulting in haploinsufficiency due to nonsense-mediated mRNA decay (NMD). Also the two nonsense variants (p.Tyr279* and p.Tyr288*) are predicted to lead to NMD. All of the missense variants cluster in the functionally important MH1 and MH2 domains (Makkar et al., 2009) (amino acids 148-275 and 331-496, respectively), which is not the case for the sole missense variant (p.Ser130Leu) found in a control individual (Figure 2). All but one (p.Arg443His) of the identified variants were absent in the ExAC control cohort (v0.3.1; Supplementary Table 2). Moreover, the missense variants in the patient cohort (7/7) are enriched in the MH1 and MH2 domains when compared to ExAC controls (n = 228/430; p = 0.02).
UR - http://www.scopus.com/inward/record.url?scp=85030093742&partnerID=8YFLogxK
U2 - 10.3389/fphys.2017.00730
DO - 10.3389/fphys.2017.00730
M3 - Comments/Debates
AN - SCOPUS:85030093742
SN - 1664-042X
VL - 8
JO - Frontiers in Physiology
JF - Frontiers in Physiology
IS - SEP
M1 - 730
ER -