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Article

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

Nature genetics - 1 Dec 2009

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

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19898479
DOI: 10.1038/ng.481
PMCID: PMC3158565

Genes

CHRNA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.PMID 19898479Read ↗

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