SHANK1 Deletions in Males with Autism Spectrum Disorder.

doi:10.1016/j.ajhg.2012.03.017

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Article

SHANK1 Deletions in Males with Autism Spectrum Disorder.

American journal of human genetics - 4 May 2012

Sato Daisuke, Lionel Anath C, Leblond Claire S, Prasad Aparna, Pinto Dalila, Walker Susan, O'Connor Irene, Russell Carolyn, Drmic Irene E, Hamdan Fadi F, Michaud Jacques L, Endris Volker, Roeth Ralph, Delorme Richard, Huguet Guillaume, Leboyer Marion, Rastam Maria, Gillberg Christopher, Lathrop Mark, Stavropoulos Dimitri J, Anagnostou Evdokia, Weksberg Rosanna, Fombonne Eric, Zwaigenbaum Lonnie, Fernandez Bridget A, Roberts Wendy, Rappold Gudrun A, Marshall Christian R, Bourgeron Thomas, Szatmari Peter, Scherer Stephen W

Abstract excerpt

Recent studies have highlighted the involvement of rare (<1% frequency) copy-number variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these variants particularly affect genes involved in the neuronal synaptic complex. The SHANK gene family consists of three members (SHANK1, SHANK2, and SHANK3), which encode scaffolding proteins required for the proper formation and function...

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Identifiers

PMID: 22503632
DOI: 10.1016/j.ajhg.2012.03.017
PMCID: PMC3376495

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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