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Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

Balciuniene, Jorune; Feng, Ningping; Iyadurai, Kelly; Hirsch, Betsy; Charnas, Lawrence; Bill, Brent R.; Easterday, Mathew C.; Staaf, Johan LU ; Oseth, LeAnn and Czapansky-Beilman, Desiree, et al. (2007) In American Journal of Human Genetics 80(5). p.938-947
Abstract
Low-copy repeats (LCRs) are genomic features that affect chromosome stability and can produce disease-associated rearrangements. We describe members of three families with deletions in 10q22.3-q23.31, a region harboring a complex set of LCRs, and demonstrate that rearrangements in this region are associated with behavioral and neurodevelopmental abnormalities, including cognitive impairment, autism, hyperactivity, and possibly psychiatric disease. Fine mapping of the deletions in members of all three families by use of a custom 10q oligonucleotide array-based comparative genomic hybridization (NimbleGen) and polymerase chain reaction - based methods demonstrated a different deletion in each family. In one proband, the deletion breakpoints... (More)
Low-copy repeats (LCRs) are genomic features that affect chromosome stability and can produce disease-associated rearrangements. We describe members of three families with deletions in 10q22.3-q23.31, a region harboring a complex set of LCRs, and demonstrate that rearrangements in this region are associated with behavioral and neurodevelopmental abnormalities, including cognitive impairment, autism, hyperactivity, and possibly psychiatric disease. Fine mapping of the deletions in members of all three families by use of a custom 10q oligonucleotide array-based comparative genomic hybridization (NimbleGen) and polymerase chain reaction - based methods demonstrated a different deletion in each family. In one proband, the deletion breakpoints are associated with DNA fragments containing noncontiguous sequences of chromosome 10, whereas, in the other two families, the breakpoints are within paralogous LCRs, removing similar to 7.2 Mb and 32 genes. Our data provide evidence that the 10q22-q23 genomic region harbors one or more genes important for cognitive and behavioral development and that recurrent deletions affecting this interval define a novel genomic disorder. (Less)
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publication status
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American Journal of Human Genetics
volume
80
issue
5
pages
938 - 947
publisher
Cell Press
external identifiers
  • wos:000245973200012
  • scopus:34247569809
ISSN
0002-9297
DOI
10.1086/513607
language
English
LU publication?
yes
id
4b6b05e6-6495-4c6b-9b7e-9d49f17e77c2 (old id 663736)
date added to LUP
2007-12-05 08:47:26
date last changed
2017-10-01 03:36:36
@article{4b6b05e6-6495-4c6b-9b7e-9d49f17e77c2,
  abstract     = {Low-copy repeats (LCRs) are genomic features that affect chromosome stability and can produce disease-associated rearrangements. We describe members of three families with deletions in 10q22.3-q23.31, a region harboring a complex set of LCRs, and demonstrate that rearrangements in this region are associated with behavioral and neurodevelopmental abnormalities, including cognitive impairment, autism, hyperactivity, and possibly psychiatric disease. Fine mapping of the deletions in members of all three families by use of a custom 10q oligonucleotide array-based comparative genomic hybridization (NimbleGen) and polymerase chain reaction - based methods demonstrated a different deletion in each family. In one proband, the deletion breakpoints are associated with DNA fragments containing noncontiguous sequences of chromosome 10, whereas, in the other two families, the breakpoints are within paralogous LCRs, removing similar to 7.2 Mb and 32 genes. Our data provide evidence that the 10q22-q23 genomic region harbors one or more genes important for cognitive and behavioral development and that recurrent deletions affecting this interval define a novel genomic disorder.},
  author       = {Balciuniene, Jorune and Feng, Ningping and Iyadurai, Kelly and Hirsch, Betsy and Charnas, Lawrence and Bill, Brent R. and Easterday, Mathew C. and Staaf, Johan and Oseth, LeAnn and Czapansky-Beilman, Desiree and Avramopoulos, Dimitri and Thomas, George H. and Borg, Åke and Valle, David and Schimmenti, Lisa A. and Selleck, Scott B.},
  issn         = {0002-9297},
  language     = {eng},
  number       = {5},
  pages        = {938--947},
  publisher    = {Cell Press},
  series       = {American Journal of Human Genetics},
  title        = {Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities},
  url          = {http://dx.doi.org/10.1086/513607},
  volume       = {80},
  year         = {2007},
}