The authors declare no conflict of interest.
Molecular and phenotypic characterization of atypical Williams–Beuren syndrome
Article first published online: 18 NOV 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Special Issue: Genetics and Translational Medicine
Volume 86, Issue 5, pages 487–491, November 2014
How to Cite
Euteneuer, J., Carvalho, C.M.B., Kulkarni, S., Vineyard, M., Mark Grady, R., Lupski, J.R. and Shinawi, M. (2014), Molecular and phenotypic characterization of atypical Williams–Beuren syndrome. Clinical Genetics, 86: 487–491. doi: 10.1111/cge.12305
- Issue published online: 16 OCT 2014
- Article first published online: 18 NOV 2013
- Accepted manuscript online: 21 OCT 2013 12:40PM EST
- Manuscript Accepted: 16 OCT 2013
- Manuscript Revised: 8 OCT 2013
- Manuscript Received: 27 JUL 2013
- Williams–Beuren syndrome
Williams–Beuren syndrome (WBS) is a multisystemic genomic disorder typically caused by a recurrent ˜1.5–1.8 Mb deletion on 7q11.23. Atypical deletions can provide important insight into the genotype–phenotype correlations. Here, we report the phenotypic and molecular characterization of a girl with a de novo 81.8 kb deletion in the WBS critical region, which involves the ELN and LIMK1 genes only. The patient presented at 2 months of age with extensive vascular abnormalities, mild facial dysmorphism and delays in her fine motor skills. We discuss potential molecular mechanisms and the role of ELN and LIMK1 in the different phenotypic features. We compare the findings in our patient with previously reported overlapping deletions. The phenotypic variability among these patients suggests that other factors are important in the phenotype and possibly include: position effects related to copy number variation size, variations in the non-deleted alleles, genetic modifiers elsewhere in the genome, or reduced penetrance for specific phenotypes.