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

Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent R. Bill, Mathew C. Easterday, Johan Staaf, Le Ann Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, George H. Thomas, Åke Borg, David Valle, Lisa A. Schimmenti, Scott Brian Selleck

Research output: Contribution to journalArticle

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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 ∼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.

Original languageEnglish (US)
Pages (from-to)938-947
Number of pages10
JournalAmerican Journal of Human Genetics
Volume80
Issue number5
DOIs
StatePublished - Jan 1 2007

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Genomic Segmental Duplications
Chromosomes, Human, Pair 10
Chromosomal Instability
Comparative Genomic Hybridization
Autistic Disorder
Oligonucleotide Array Sequence Analysis
Genes
Psychiatry
Polymerase Chain Reaction
DNA

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Balciuniene, Jorune ; Feng, Ningping ; Iyadurai, Kelly ; Hirsch, Betsy ; Charnas, Lawrence ; Bill, Brent R. ; Easterday, Mathew C. ; Staaf, Johan ; Oseth, Le Ann ; Czapansky-Beilman, Desiree ; Avramopoulos, Dimitri ; Thomas, George H. ; Borg, Åke ; Valle, David ; Schimmenti, Lisa A. ; Selleck, Scott Brian. / Recurrent 10q22-q23 deletions : A genomic disorder on 10q associated with cognitive and behavioral abnormalities. In: American Journal of Human Genetics. 2007 ; Vol. 80, No. 5. pp. 938-947.
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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 ∼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.",
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Balciuniene, J, Feng, N, Iyadurai, K, Hirsch, B, Charnas, L, Bill, BR, Easterday, MC, Staaf, J, Oseth, LA, Czapansky-Beilman, D, Avramopoulos, D, Thomas, GH, Borg, Å, Valle, D, Schimmenti, LA & Selleck, SB 2007, 'Recurrent 10q22-q23 deletions: A genomic disorder on 10q associated with cognitive and behavioral abnormalities', American Journal of Human Genetics, vol. 80, no. 5, pp. 938-947. https://doi.org/10.1086/513607

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; Oseth, Le Ann; Czapansky-Beilman, Desiree; Avramopoulos, Dimitri; Thomas, George H.; Borg, Åke; Valle, David; Schimmenti, Lisa A.; Selleck, Scott Brian.

In: American Journal of Human Genetics, Vol. 80, No. 5, 01.01.2007, p. 938-947.

Research output: Contribution to journalArticle

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T1 - Recurrent 10q22-q23 deletions

T2 - A genomic disorder on 10q associated with cognitive and behavioral abnormalities

AU - Balciuniene, Jorune

AU - Feng, Ningping

AU - Iyadurai, Kelly

AU - Hirsch, Betsy

AU - Charnas, Lawrence

AU - Bill, Brent R.

AU - Easterday, Mathew C.

AU - Staaf, Johan

AU - Oseth, Le Ann

AU - Czapansky-Beilman, Desiree

AU - Avramopoulos, Dimitri

AU - Thomas, George H.

AU - Borg, Åke

AU - Valle, David

AU - Schimmenti, Lisa A.

AU - Selleck, Scott Brian

PY - 2007/1/1

Y1 - 2007/1/1

N2 - 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 ∼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.

AB - 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 ∼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.

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