Copy number variation analysis in 98 individuals with PHACE syndrome

Dawn H. Siegel, Joseph T.C. Shieh, Eun Kyung Kwon, Eulalia Baselga, Francine Blei, Maria Cordisco, William B. Dobyns, Kelly J. Duffy, Maria C. Garzon, David L. Gibbs, Johannes F. Grimmer, Susan J. Hayflick, Alfons L. Krol, Pui Yan Kwok, Rachel Lorier, Andrea Matter, Shannon McWeeney, Denise Metry, Sheri Mitchell, Elena PopeJennifer L. Santoro, David A. Stevenson, Pinar Bayrak-Toydemir, Beth Wilmot, Elizabeth A. Worthey, Ilona J. Frieden, Beth A. Drolet, Ulrich Broeckel

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


PHACE syndrome is the association of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformations, cerebral arterial anomalies, coarctation of the aorta, eye anomalies, and sternal defects. To date, the reported cases of PHACE syndrome have been sporadic, suggesting that PHACE may have a complex pathogenesis. We report here genomic copy number variation (CNV) analysis of 98 individuals with PHACE syndrome as a first step in deciphering a potential genetic basis of PHACE syndrome. A total of 3,772 CNVs (2,507 duplications and 1,265 deletions) were detected in 98 individuals with PHACE syndrome. CNVs were then eliminated if they failed to meet established criteria for quality, spanned centromeres, or did not contain genes. CNVs were defined as "rare" if not documented in the database of genomic variants. Ten rare CNVs were discovered (size range: 134-406 kb), located at 1q32.1, 1q43, 3q26.32-3q26.33, 3p11.1, 7q33, 10q24.32, 12q24.13, 17q11.2, 18p11.31, and Xq28. There were no rare CNV events that occurred in more than one subject. Therefore, further study is needed to determine the significance of these CNVs in the pathogenesis of PHACE syndrome.

Original languageEnglish (US)
Pages (from-to)677-684
Number of pages8
JournalJournal of Investigative Dermatology
Issue number3
StatePublished - Mar 2013
Externally publishedYes

Bibliographical note

Funding Information:
We thank Shawna Joachim for assisting with study coordination and manuscript preparation and Gina Im for assisting with data management. We are grateful to the families for their participation in the study and to the physicians who referred patients for this study. This publication was made possible with support from the Oregon Clinical and Translational Research Institute, by grant# UL1 RR024140 from the National Center for Research Resources (NCRR), and by the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH). Additional funding sources include Society for Pediatric Dermatology (DHS), Dermatology Foundation (DHS), Greater Milwaukee Foundation (DHS, BD), Families, Society of Pediatric Otolaryngology, Public Health Services research grants UL1-RR025764 and C06-RR11234 from the NCRR, the Children’s Health Research Center and Clinical Genetics Research Program at the University of Utah, and the American Society of Pediatric Otolaryngology (JFG, PBT, SM, DHS). JS was funded by NIH/NHLBI K08HL092970. The project was supported in part by funds from Children’s Research Institute, Medical College of Wisconsin (UB).


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