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Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development.

Psychiatric genetics - 1 Aug 2011

Waga Chikako, Okamoto Nobuhiko, Ondo Yumiko, Fukumura-Kato Reiko, Goto Yu-Ichi, Kohsaka Shinichi, Uchino Shigeo

Abstract excerpt

The 22q13.3 deletion syndrome is characterized by a significant delay in language development, mental retardation, hypotonia, and autistic features. Cumulative evidence has shown that haploinsufficiency of the SHANK3 gene is a major cause of the neurological symptoms of the 22q13.3 deletion syndrome. Shank3, a multidomain protein containing the SH3 and PDZ domains, is thought to play an important role in the...

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PMID: 21378602
DOI: 10.1097/YPG.0b013e328341e069

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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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