Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome
Por:
Siegel, DH, Shieh, JTC, Kwon, EK, Baselga, E, Blei, F, Cordisco, M, Dobyns, WB, Duffy, KJ, Garzon, MC, Gibbs, DL, Grimmer, JF, Hayflick, SJ, Krol, AL, Kwok, PY, Lorier, R, Matter, A, McWeeney, S, Metry, D, Mitchell, S, Pope, E, Santoro, JL, Stevenson, DA, Bayrak-Toydemir, P, Wilmot, B, Worthey, EA, Frieden, IJ, Drolet, BA, Broeckel, U
Publicada:
1 mar 2013
Resumen:
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. Journal of Investigative Dermatology (2013) 133, 677-684; doi:10.1038/jid.2012.367; published online 25 October 2012
Filiaciones:
Siegel, DH:
Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA
Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA
Shieh, JTC:
Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA
Kwon, EK:
Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA
Baselga, E:
Hosp Santa Creu & Sant Pau, Dept Dermatol, Barcelona, Spain
Blei, F:
Vasc Birthmark Inst New York, Dept Hematol & Oncol, New York, NY USA
Cordisco, M:
Hosp Pediat JP Garrahan, Dept Dermatol, Buenos Aires, DF, Argentina
Dobyns, WB:
Univ Washington, Dept Pediat, Seattle, WA 98195 USA
Univ Washington, Dept Neurol, Seattle, WA 98195 USA
Duffy, KJ:
Med Coll Wisconsin, Dept Radiol, Milwaukee, WI 53226 USA
Garzon, MC:
Columbia Univ, Dept Dermatol, Columbia, NY USA
Columbia Univ, Dept Pediat, Columbia, NY USA
Gibbs, DL:
Oregon Hlth & Sci Univ, Dept Bioinformat & Computat Biol, Portland, OR 97201 USA
Grimmer, JF:
Univ Utah, Dept Surg, Salt Lake City, UT USA
Univ Utah, Dept Otolaryngol, Salt Lake City, UT USA
Hayflick, SJ:
Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA
Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97201 USA
Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA
Krol, AL:
Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97201 USA
Oregon Hlth & Sci Univ, Dept Dermatol, Portland, OR 97201 USA
Kwok, PY:
Univ Calif San Francisco, Dept Cardiovasc Res, San Francisco, CA 94143 USA
Lorier, R:
Med Coll Wisconsin, Dept Human & Mol Genet, Milwaukee, WI 53226 USA
Matter, A:
Med Coll Wisconsin, Dept Human & Mol Genet, Milwaukee, WI 53226 USA
McWeeney, S:
Oregon Hlth & Sci Univ, Dept Biostat, Portland, OR 97201 USA
Metry, D:
Baylor Coll Med, Dept Dermatol, Houston, TX 77030 USA
Mitchell, S:
ARUP Labs, ARUP Clin & Expt Pathol, Salt Lake City, UT USA
Pope, E:
Univ Toronto, Dept Pediat, Toronto, ON, Canada
Univ Toronto, Dept Dermatol, Toronto, ON, Canada
Santoro, JL:
Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA
Stevenson, DA:
Univ Utah, Dept Pediat, Salt Lake City, UT USA
Bayrak-Toydemir, P:
Univ Utah, Dept Pathol, Salt Lake City, UT USA
Wilmot, B:
Oregon Hlth & Sci Univ, Dept Biostat, Portland, OR 97201 USA
Worthey, EA:
Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA
Frieden, IJ:
Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA
Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA
Drolet, BA:
Med Coll Wisconsin, Dept Dermatol, Milwaukee, WI 53226 USA
Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA
Broeckel, U:
Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA
Green Accepted, Bronze
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