Sheri Mitchell and Dawn H. Siegel contributed equally to this work.
Article first published online: 27 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 6, pages 1363–1367, June 2012
How to Cite
Mitchell, S., Siegel, D. H., Shieh, J. T.C., Stevenson, D. A., Grimmer, J. F., Lewis, T., Metry, D., Frieden, I., Blei, F., Kayserili, H., Drolet, B. A. and Bayrak-Toydemir, P. (2012), Candidate locus analysis for PHACE syndrome. Am. J. Med. Genet., 158A: 1363–1367. doi: 10.1002/ajmg.a.35341
How to Cite this Article: Mitchell S, Siegel DH, Shieh JTC, Stevenson DA, Grimmer JF, Lewis T, Metry D, Frieden I, Blei F, Kayserili H, Drolet BA, Bayrak-Toydemir P. 2012. Candidate locus analysis for PHACE syndrome. Am J Med Genet Part A. 158A:1363–1367.
- Issue published online: 17 MAY 2012
- Article first published online: 27 APR 2012
- Manuscript Accepted: 30 JAN 2012
- Manuscript Received: 7 JUL 2011
- National Center for Research Resources. Grant Numbers: #UL1-RR025764, C06-RR11234, UL1 RR024140 01
- Children's Health Research Center and Clinical Genetics Research Program
- Thrasher Research Fund
- Oregon Clinical and Translational Research Institute
- NIH HNLBI
- PHACE syndrome;
- chromosome region 7q33;
PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high-resolution oligo-comparative genomic hybridization (CGH) microarray. A second individual in this cohort had a 26.5 kb deletion approximately 80 kb upstream of SLC35B4 with partial deletion of the AKR1B1 on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors. © 2012 Wiley Periodicals, Inc.