Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome
| العنوان: | Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome |
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| المؤلفون: | Susan J. Hayflick, Pui-Yan Kwok, William B. Dobyns, Pinar Bayrak-Toydemir, Sheri Mitchell, Beth A. Drolet, Beth Wilmot, Elizabeth A. Worthey, Elena Pope, Rachel Lorier, Johannes Fredrik Grimmer, Shannon K. McWeeney, Maria R. Cordisco, Denise W. Metry, Ulrich Broeckel, Eun Kyung M. Kwon, Jennifer L. Santoro, Francine Blei, David A. Stevenson, Ilona J. Frieden, Kelly J. Duffy, Joseph T. Shieh, Dawn H. Siegel, Alfons Krol, Andrea Matter, David L Gibbs, Maria C. Garzon, Eulalia Baselga |
| المصدر: | JOURNAL OF INVESTIGATIVE DERMATOLOGY r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname The Journal of investigative dermatology |
| بيانات النشر: | ELSEVIER SCIENCE INC, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, Genotyping Techniques, Coarctation of the aorta, Dermatology, Biology, Biochemistry, Article, Aortic Coarctation, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Posterior fossa malformations, Dna genetics, medicine, Humans, Copy-number variation, Eye Abnormalities, Child, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, PHACE syndrome, Neurocutaneous Syndromes, Extramural, copy number variation, Infant, Reproducibility of Results, Cell Biology, DNA, PHACES syndrome, medicine.disease, Pascual-Castroviejo II syndrome, Xq28, Eye abnormality, hemangioma, aortic arch anomaly, Case-Control Studies, Child, Preschool, Female, 030217 neurology & neurosurgery, Signal Transduction |
| الوصف: | 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 |
| تدمد: | 0022-202X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78df36f82e0645e2d1db25a0e751193Test https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10857Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f78df36f82e0645e2d1db25a0e751193 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 0022202X |
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