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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-12

AUTHORS

Marwan Shinawi, 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

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. More... »

PAGES

1269-1271

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.481

DOI

http://dx.doi.org/10.1038/ng.481

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042423921

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19898479


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