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J Invest Dermatol. 2013 Mar;133(3):677-684. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25.

Copy number variation analysis in 98 individuals with PHACE syndrome.

Author information

1
Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. Electronic address: dsiegel@mcw.edu.
2
Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA.
3
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
4
Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
5
Department of Hematology and Oncology, Vascular Birthmark Institute of New York, New York, New York, USA.
6
Department of Dermatology, Hospital de Pediatria JP Garrahan, Buenos Aires, Argentina.
7
Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, USA.
8
Department of Radiology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
9
Departments of Dermatology and Pediatrics, Columbia University, Columbia, New York, USA.
10
Department of Bioinformatics and Computational Biology, Oregon Health & Science University, Portland, Oregon, USA.
11
Departments of Surgery and Otolaryngology, University of Utah, Salt Lake City, Utah, USA.
12
Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health & Science University, Portland, Oregon, USA.
13
Departments of Dermatology and Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.
14
Department of Cardiovascular Research, University of California, San Francisco, San Francisco, California, USA.
15
Department of Human and Molecular Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
16
Department of Biostatistics, Oregon Health & Science University, Portland, Oregon, USA.
17
Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA.
18
ARUP Clinical & Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA.
19
Departments of Pediatrics and Dermatology, University of Toronto, Toronto, Ontario, Canada.
20
Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
21
Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
22
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
23
Departments of Dermatology and Pediatrics, University of California, San Francisco, San Francisco, California, USA.
24
Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

Abstract

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.

PMID:
23096700
PMCID:
PMC3971866
DOI:
10.1038/jid.2012.367
[Indexed for MEDLINE]
Free PMC Article

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