A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
dc.contributor.author | Bedoyan, Jirair K. | en_US |
dc.contributor.author | Lesperance, Marci M. | en_US |
dc.contributor.author | Ackley, Todd | en_US |
dc.contributor.author | Iyer, Ramaswamy K. | en_US |
dc.contributor.author | Innis, Jeffrey W. | en_US |
dc.contributor.author | Misra, Vinod K. | en_US |
dc.date.accessioned | 2011-03-10T16:03:30Z | |
dc.date.accessioned | 2011-03-10T16:03:30Z | |
dc.date.available | 2012-02-21T18:47:00Z | en_US |
dc.date.issued | 2011-01 | en_US |
dc.identifier.citation | Bedoyan, Jirair K.; Lesperance, Marci M.; Ackley, Todd; Iyer, Ramaswamy K.; Innis, Jeffrey W.; Misra, Vinod K. (2011). "A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia." American Journal of Medical Genetics Part A 155(1): 154-163. <http://hdl.handle.net/2027.42/83206> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/83206 | |
dc.description.abstract | Genomic rearrangements are increasingly recognized as important contributors to human disease. Here we report on an 11½-year-old child with myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay, and a complex 6p25 genomic rearrangement. We have employed oligonucleotide-based comparative genomic hybridization arrays (aCGH) of different resolutions (44 and 244K) as well as a 1 M single nucleotide polymorphism (SNP) array to analyze this complex rearrangement. Our analyses reveal a complex rearrangement involving a ∼2.21 Mb interstitial deletion, a ∼240 kb terminal deletion, and a 70–80 kb region in between these two deletions that shows maintenance of genomic copy number. The interstitial deletion contains eight known genes, including three Forkhead box containing (FOX) transcription factors ( FOXQ1 , FOXF2 , and FOXC1 ). The region maintaining genomic copy number partly overlaps the dual specificity protein phosphatase 22 ( DUSP22 ) gene. Array analyses suggest a homozygous loss of genomic material at the 5′ end of DUSP22 , which was corroborated using TaqMan® copy number analysis. It is possible that this homozygous genomic loss may render both copies of DUSP22 or its products non-functional. Our analysis suggests a rearrangement mechanism distinct from a previously reported replication-based error-prone mechanism without template switching for a specific 6p25 rearrangement with a 1.22 Mb interstitial deletion. Our study demonstrates the utility and limitations of using oligonucleotide-based aCGH and SNP array technologies of increasing resolutions in order to identify complex DNA rearrangements and gene disruptions. © 2010 Wiley-Liss, Inc. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, Michigan ; Division of Pediatric Genetics, University of Michigan Medical Center, D5240 MPB, 1500 East Medical Center Drive, SPC 5718, Ann Arbor, MI 48109-5718. | en_US |
dc.contributor.affiliationum | Department of Otolaryngology-Head and Neck Surgery, The University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, Michigan ; Department of Pathology, The University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, Michigan ; Department of Human Genetics, The University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/83206/1/33751_ftp.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.33751 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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