Publications (3)5.74 Total impact
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Article: A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
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ABSTRACT: We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1, SIX1, and SIX5, genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis of the excised cervical sinus tracts was revised on re-examination to heterotopic salivary gland tissue. Using high resolution chromosomal microarray analysis, we identified a novel 2.52 Mb deletion at 19p13.12, which was confirmed by fluorescent in situ hybridization and demonstrated to be a de novo mutation by testing of the parents. Overall, deletions of chromosome 19p13 are rare.American Journal of Medical Genetics Part A 03/2009; 149A(3):396-402. · 2.39 Impact Factor -
Article: Contributions of E1A to mouse adenovirus type 1 pathogenesis following intranasal inoculation.
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ABSTRACT: We investigated the role of mouse adenovirus type 1 (MAV-1) early region 1A (E1A) protein in adenovirus respiratory infection. Intranasal (i.n.) inoculation of mice with wild type (wt) virus induced chemokine and cellular inflammatory responses in the lung. We observed similar responses in mice infected with an E1A-null mutant virus at the same dose, although the magnitude of these responses was lower. Levels of viral hexon gene expression were lower in the lung following infection with E1A-null virus than with wt virus. When input doses were adjusted so that equivalent viral loads were present following infection with varying doses of wt and E1A-null virus, we observed equivalent chemokine upregulation in the lung. Dissemination to the brain occurred following i.n. inoculation with equal doses of wt or E1A-null virus, but viral gene expression and viral loads were lower and the magnitude of chemokine responses was lower in brains of E1A-null virus-infected mice. CD4 and CD8 T cells and neutrophils were recruited to the brains of mice infected with either wt or E1A-null virus. Together, these data suggest that MAV-1 E1A makes important contributions to viral replication in the lung and the brain following i.n. inoculation. However, E1A is not essential for the induction of inflammatory responses in the lung or for viral dissemination out of the lung.Virology 02/2007; 357(1):54-67. · 3.35 Impact Factor -
Article: A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies How to cite this article: Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. 2009. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet Part A 149A:396–402.
[show abstract] [hide abstract]
ABSTRACT: We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1 , SIX1 , and SIX5 , genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis of the excised cervical sinus tracts was revised on re-examination to heterotopic salivary gland tissue. Using high resolution chromosomal microarray analysis, we identified a novel 2.52 Mb deletion at 19p13.12, which was confirmed by fluorescent in situ hybridization and demonstrated to be a de novo mutation by testing of the parents. Overall, deletions of chromosome 19p13 are rare. © 2009 Wiley-Liss, Inc. Peer Reviewed http://deepblue.lib.umich.edu/bitstream/2027.42/61892/1/32691_ftp.pdf
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2009
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University of Michigan
- Department of Otolaryngology - Head and Neck Surgery
Ann Arbor, MI, USA -
Concordia University–Ann Arbor
Ann Arbor, MI, USA
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