GENETICS Correction for “Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis,” by Andrew T. Timberlake, Sheng Chih Jin, Carol Nelson-Williams, Robin Wu, Charuta G. Furey, Barira Islam, Shozeb Haider, Erin Loring, Amy Galm, Yale Center for Genome Analysis, Derek M. Steinbacher, Dawid Larysz, David A. Staffenberg, Roberto L. Flores, Eduardo D. Rodriguez, Titus J. Boggon, John A. Persing, and Richard P. Lifton, which was first published July 10, 2019; 10.1073/pnas.1902041116 (Proc. Natl. Acad. Sci. U.S.A. 116, 15116–15121).
The authors note that Fig. 3 appeared incorrectly. The corrected figure and its legend appear below.
Fig. 3.
De novo mutation in SOX11. (A) Note the full cheeks, everted lower lip, brachydactyly, and clinodactyly (37). Three-dimensional computed tomography reconstruction demonstrates R lambdoid CS. The X-ray of the hand demonstrates absence of the fifth digit distal phalanx. The proband’s sixth digit was removed early in infancy and thus, is not shown. (B) The mutation p.R64H in SOX11 was present in the proband but not in parents. (C) Analysis of sequence alignment indicates that Arg64 should function similar to the equivalent conserved arginine in SOX4 and SOX17 as a critical residue for DNA sequence recognition (25). Structural analysis of the nearly identical Sox4 in complex with DNA (PDB ID code 3U2B) (25) indicates that arginine at the location of R64 is critical for proper DNA sequence recognition.
The authors also note that, due to a printer’s error, Table 2 appeared incorrectly. The corrected table appears below.
Table 2.
Likely pathogenic variants in probands with syndromic CS
| Kindred identification | Type of CS | Gene | Impact | Inheritance | ExAC frequency | pLI |
| SAG249 | Sagittal | TFAP2B | M1I (start loss) | Inherited (unaffected parent) | 0 | 0.99 |
| MET268 | Metopic | TFAP2B | K276R | De novo | 0 | 0.99 |
| MET271 | Metopic | TFAP2B | IVS3+2 T > A | De novo | 0 | 0.99 |
| MET117 | Metopic | TFAP2B | R382X | Inherited (affected parent) | 0 | 0.99 |
| SAG250 | Sagittal and metopic | KAT6A | E1221X | De novo | 0 | 1 |
| LAM108 | Lambdoid | SOX11 | R64H | De novo | 0 | 0.34 |
| PSAG38 | Sagittal | GLI2 | A551T | De novo | 0 | 1 |
| MET188 | Metopic | GPC4 | V152fs | De novo in mother | 0 | 0.95 |
| SAG359 | Sagittal | CTNNA1 | V374_375insSWKMK | De novo | 0 | 0.97 |