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Correction

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

  • Joe Rainger,
  • Ellen van Beusekom,
  • Jacqueline K. Ramsay,
  • Lisa McKie,
  • Lihadh Al-Gazali,
  • Rosanna Pallotta,
  • Anita Saponari,
  • Peter Branney,
  • Malcolm Fisher,
  • Harris Morrison,
  • Louise Bicknell,
  • Philippe Gautier,
  • Paul Perry,
  • Kishan Sokhi,
  • David Sexton,
  • Tanya M. Bardakjian,
  • Adele S. Schneider,
  • Nursel Elcioglu,
  • Ferda Ozkinay,
  • Rainer Koenig,
  • Andre Mégarbané,
  • C. Nur Semerci,
  • Ayesha Khan,
  • Saemah Zafar,
  • Raoul Hennekam,
  • Sérgio B. Sousa,
  • Lina Ramos,
  • Livia Garavelli,
  • Andrea Superti Furga,
  • Anita Wischmeijer,
  • Ian J. Jackson,
  • Gabriele Gillessen-Kaesbach,
  • Han G. Brunner,
  • Dagmar Wieczorek,
  • Hans van Bokhoven,
  •  [ ... ],
  • David R. FitzPatrick
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It has come to the authors’ attention that there is a systematic numbering error in the cDNA nomenclature used to describe the causative genotypes. The authors are issuing a correction to rectify this mistake. This error does not affect the scientific accuracy of the underlying data.

Fig 2 and its legend have been corrected to account for this change. The corrected cDNA and protein numbers in Fig 2 are shown in red text.

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Fig 2. Mutation analysis.

(a) Family pedigrees and associated SMOC1 mutations identified. The pedigree for Family 1 is representative and shows segregation of a homozygous SMOC1 mutation (c.910delG; p.Asp304Metfs*60) in affected individuals with both parents and the unaffected siblings being heterozygous carriers. (n.t.- Sample not tested). (b) Schematic of the SMOC1 gene (top) and predicted protein (below), illustrating the exon positions for all eight mutations identified in the OAS families. Coding exons are coloured black and numbered, UTRs are brown, protein domains are labeled with amino acid residue numbers. Red arrowheads indicate the position of the mutations in the peptide. Where available the dbSNP rs numbers of the variants are provided in blue text. Red asterisks highlight the missense changes, which are located in the second thyroglobulin domain thought to be involved in the control of proteolytic degradation. The Ensembl transcript ENST00000361956 was used to position the variants in the cDNA.

https://doi.org/10.1371/journal.pgen.1007866.g001

Table 1 has also been corrected. The corrected cDNA and protein numbers are shown in bold red text.

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Table 1. Clinical features and mutations in affected individuals with Ophthalmo-Acromelic Syndrome.

https://doi.org/10.1371/journal.pgen.1007866.t001

Reference

  1. 1. Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, et al. (2011) Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. PLoS Genet 7(7): e1002114. https://doi.org/10.1371/journal.pgen.1002114pmid:21750680

Citation: Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, et al. (2018) Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. PLoS Genet 14(12): e1007866. https://doi.org/10.1371/journal.pgen.1007866

Published: December 26, 2018

Copyright: © 2018 Rainger et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.