Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2009 Dec;41(12):1269-71.
doi: 10.1038/ng.481. Epub 2009 Nov 8.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Marwan Shinawi  1 , Christian P Schaaf, Samarth S Bhatt, Zhilian Xia, Ankita Patel, Sau Wai Cheung, Brendan Lanpher, Sandra Nagl, Heinrich Stephan Herding, Claudia Nevinny-Stickel, LaDonna L Immken, Gayle Simpson Patel, Jennifer Ruth German, Arthur L Beaudet, Pawel Stankiewicz
Affiliations

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Marwan Shinawi et al. Nat Genet. 2009 Dec.

Abstract

We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome.

PubMed Disclaimer

Conflict of interest statement

COMPETING INTERESTS STATEMENT

The authors declare competing financial interests: details accompany the full-text HTML version of the paper at http://www.nature.com/naturegenetics/.

Figures

Figure 1
Figure 1
Results of array CGH analysis with a 15q13.3 region-specific high-resolution 135K oligonucleotide microarray (NimbleGen). We identified the same apparent patterns of CNV changes in all four individuals with the 680-kb deletion, indicating that these deletions arose as a result of NAHR on chromosomes 15 with the same or nearly identical BP4-BP5 inversion.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Sharp AJ, et al. Nat Genet. 2008;40:322–328. - PMC - PubMed
    1. Miller DT, et al. J Med Genet. 2009;46:242–248. - PMC - PubMed
    1. Ben-Shachar S, et al. J Med Genet. 2009;46:382–388. - PMC - PubMed
    1. van Bon BW, et al. J Med Genet. 2009;46:511–523. - PMC - PubMed
    1. Stefansson H, et al. Nature. 2008;455:232–236. - PMC - PubMed

Publication types

Substances