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Article

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.

Journal of medical genetics - 1 Jan 2011

Pagnamenta Alistair T, Khan Hameed, Walker Susan, Gerrelli Dianne, Wing Kirsty, Bonaglia Maria Clara, Giorda Roberto, Berney Tom, Mani Elisa, Molteni Massimo, Pinto Dalila, Le Couteur Ann, Hallmayer Joachim, Sutcliffe James S, Szatmari Peter, Paterson Andrew D, Scherer Stephen W, Vieland Veronica J, Monaco Anthony P

Abstract excerpt

BACKGROUND: Autism spectrum disorder (ASD) is characterised by impairments in social communication and by a pattern of repetitive behaviours, with learning disability (LD) typically seen in up to 70% of cases. A recent study using the PPL statistical framework identified a novel region of genetic...

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Identifiers

PMID: 20972252
DOI: 10.1136/jmg.2010.079426
PMCID: PMC3003876

Genes

CDH8
PPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20972252-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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