These authors contributed equally to this work.
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
Article first published online: 17 SEP 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 86, Issue 2, pages 142–148, August 2014
How to Cite
Weh, E., Reis, L.M., Tyler, R.C., Bick, D., Rhead, W.J., Wallace, S., McGregor, T.L., Dills, S.K., Chao, M.-C., Murray, J.C. and Semina, E.V. (2014), Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clinical Genetics, 86: 142–148. doi: 10.1111/cge.12241
The authors declare no conflict of interest.
- Issue published online: 21 JUL 2014
- Article first published online: 17 SEP 2013
- Accepted manuscript online: 24 JUL 2013 11:33AM EST
- Manuscript Revised: 17 JUL 2013
- Manuscript Accepted: 17 JUL 2013
- Manuscript Received: 23 MAY 2013
- National Institutes of Health. Grant Numbers: R01EY015518, R21DC010912
- Children's Hospital of Wisconsin (EVS)
- Clinical and Translational Science Award (CTSA) program. Grant Number: 1UL1RR031973
|cge12241-sup-0001-TableS1.doc||Word document||113K||Table S1. Phenotype summary of B3GALTL-negative PPS-like cases reported in this study and literature|
|cge12241-sup-0002-TableS2.doc||Word document||33K||Table S2. Summary of rare likely benign variants identified in B3GALTL|
|cge12241-sup-0003-FigureS1.tif||TIFF image||812K||Figure S1. (a) Novel B3GALTL mutations in Peters plus syndrome patients identified in this study. The position of each mutation is indicated with a black arrow. (b) Results of TaqMan copy number assays targeting 5′ (intron 1) and 3′ (exon 14) regions of B3GALTL that were performed on DNA samples from Patients 1, 3 and 8, who appeared homozygous for the common c.660+1G>A splicing mutation, alongside a control sample with diploid B3GALTL copy number; haploid copy number for both probes was detected for Patient 1 (arrow) while Patients 3 and 8 were diploid for both probes. (c) Evolutionary conservation of amino acid residues affected by missense mutations identified in Patients 7 and 9; note 100% conservation of both positions in vertebrates (box).|
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