Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.

doi:10.1002/ajmg.b.32806

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Article

Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Sept 2020

Piras Ignazio Stefano, Picinelli Chiara, Iennaco Raffaele, Baccarin Marco, Castronovo Paola, Tomaiuolo Pasquale, Cucinotta Francesca, Ricciardello Arianna, Turriziani Laura, Nanetti Lorenzo, Mariotti Caterina, Gellera Cinzia, Lintas Carla, Sacco Roberto, Zuccato Chiara, Cattaneo Elena, Persico Antonio M

Abstract excerpt

The Huntingtin (HTT) gene contains a CAG repeat in exon 1, whose expansion beyond 39 repeats consistently leads to Huntington's disease (HD), whereas normal-to-intermediate alleles seemingly modulate brain structure, function and behavior. The role of the CAG repeat in Autism Spectrum Disorder (ASD) was investigated applying both family-based and case-control association designs, with the SCA3 repeat as a...

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PMID: 32652810
DOI: 10.1002/ajmg.b.32806

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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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