Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-03

AUTHORS

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 Pope, Jennifer L Santoro, David A Stevenson, Pinar Bayrak-Toydemir, Beth Wilmot, Elizabeth A Worthey, Ilona J Frieden, Beth A Drolet, Ulrich Broeckel

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. More... »

PAGES

677-684

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jid.2012.367

DOI

http://dx.doi.org/10.1038/jid.2012.367

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028134580

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23096700


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484 Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. Electronic address: dsiegel@mcw.edu.
485 rdf:type schema:Organization
486 https://www.grid.ac/institutes/grid.34477.33 schema:alternateName University of Washington
487 schema:name Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, USA.
488 rdf:type schema:Organization
489 https://www.grid.ac/institutes/grid.39382.33 schema:alternateName Baylor College of Medicine
490 schema:name Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA.
491 rdf:type schema:Organization
492 https://www.grid.ac/institutes/grid.413396.a schema:alternateName Hospital de Sant Pau
493 schema:name Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
494 rdf:type schema:Organization
495 https://www.grid.ac/institutes/grid.5288.7 schema:alternateName Oregon Health & Science University
496 schema:name Department of Bioinformatics and Computational Biology, Oregon Health & Science University, Portland, Oregon, USA.
497 Department of Biostatistics, Oregon Health & Science University, Portland, Oregon, USA.
498 Departments of Dermatology and Pediatrics, Oregon Health & Science University, Portland, Oregon, USA.
499 Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health & Science University, Portland, Oregon, USA.
500 rdf:type schema:Organization
 




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