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Article

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.

Molecular psychiatry - 1 Jan 2011

Delahanty R J, Kang J Q, Brune C W, Kistner E O, Courchesne E, Cox N J, Cook E H, Macdonald R L, Sutcliffe J S

Abstract excerpt

Maternal 15q11-q13 duplication is the most common copy number variant in autism, accounting for ∼1-3% of cases. The 15q11-q13 region is subject to epigenetic regulation, and genomic copy number losses and gains cause genomic disorders in a parent-of-origin-specific manner. One 15q11-q13 locus encodes the GABA(A) receptor β3 subunit gene (GABRB3), which has been implicated by several studies in both autism and...

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Identifiers

PMID: 19935738
DOI: 10.1038/mp.2009.118
PMCID: PMC3428055

Genes

GABRB3

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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