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

Author:
  • Jorune Balciuniene
  • Ningping Feng
  • Kelly Iyadurai
  • Betsy Hirsch
  • Lawrence Charnas
  • Brent R. Bill
  • Mathew C. Easterday
  • Johan Staaf
  • LeAnn Oseth
  • Desiree Czapansky-Beilman
  • Dimitri Avramopoulos
  • George H. Thomas
  • Åke Borg
  • David Valle
  • Lisa A. Schimmenti
  • Scott B. Selleck
Publishing year: 2007
Language: English
Pages: 938-947
Publication/Series: American Journal of Human Genetics
Volume: 80
Issue: 5
Document type: Journal article
Publisher: Cell Press

Abstract english

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.

Keywords

  • Medical Genetics

Other

Published
  • ISSN: 0002-9297
Åke Borg
Åke Borg
E-mail: ake.borg [at] med.lu.se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2

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Project manager

Familial Breast Cancer

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Professor

Oncology and Pathology, MV

MV 404 C21C2

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