Human Molecular Genetics 2013 23:7; pp. 1687-1699; doi: 10.1093/hmg/ddt558

Upon reviewing the data in our paper, we noticed 2 errors: The p.Val1386Leu described as c.4157T > G should be c.4156G > T and the p.Tyr1541Cys described as c.4622G > T should be c.4622A > G. Therefore, we would like to submit an amendment on page 1691 and a revised Table S1 as shown below. These nomenclature errors arose only while writing up the manuscript and do not affect the findings and conclusions of our study. We apologize for these errors.

Table S1.

Novel rare mutations (<1%) in LRP6 in human neural tube defects absent in controls.

Mutationa Amino acid changea Polyphenb SIFTb NTD patientc 
c.916T > C p.Tyr306His Benign Tolerated M, DOB 1993, lumbosacral MMC, tethered cord 
c.1118A > G p. Tyr373Cys Probably damaging Tolerated F, DOB 1998, lumbosacral MMC, hydrocephalus, CMII 
c.4156G > T p.Val1386Leu Possibly damaging Tolerated F, DOB 2003, intraparietal posterior encephalocele 
c.4622A > G p.Tyr1541Cys Benign Not tolerated F, DOB 2002, sacral agenesis type II, lumbosacral meningocele, lumbar diastematomyelia type II, tethered cord 
Mutationa Amino acid changea Polyphenb SIFTb NTD patientc 
c.916T > C p.Tyr306His Benign Tolerated M, DOB 1993, lumbosacral MMC, tethered cord 
c.1118A > G p. Tyr373Cys Probably damaging Tolerated F, DOB 1998, lumbosacral MMC, hydrocephalus, CMII 
c.4156G > T p.Val1386Leu Possibly damaging Tolerated F, DOB 2003, intraparietal posterior encephalocele 
c.4622A > G p.Tyr1541Cys Benign Not tolerated F, DOB 2002, sacral agenesis type II, lumbosacral meningocele, lumbar diastematomyelia type II, tethered cord 

a The DNA mutation and amino acid numbering systems are based on LRP6 cDNA sequence with the accession NM_002336.2 and LRP6 protein sequence with the accession NP_002327.2 respectively. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence.

b PolyPhen or Polymorphism Phenotyping at http://genetics. bwh.harvard.edu/pph/ and SIFT or Sorting Intolerant from Tolerant at http://sift.jcvi.org/.

c DOB: date of birth; CMII, Chiari malformation II; F, female; M, male; MMC, myelomeningocele