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

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

Research output: Contribution to journalArticlepeer-review

146 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1269-1271
Number of pages3
JournalNature Genetics
Volume41
Issue number12
DOIs
StatePublished - Dec 2009

ASJC Scopus subject areas

  • Genetics

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