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Article

Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease.

Journal of Huntington's disease - 1 Aug 2026

Findlay Black Hailey, Levesley Jessica, Kay Chris, Bortnick Stephanie, Javier Kyla, Hayden Michael R

Abstract excerpt

Age of onset in Huntington disease (HD) is influenced by cis-acting genetic variants, particularly the loss of interrupting codons in the HTT CAG and CCG repeats (CAG-CCG LOI variant). The CAG-CCG LOI variant is not detectable by current diagnostic assays, leading to underestimation of CAG repeat length, misdiagnosis, and inaccurate prediction of risk of symptom onset in the reduced penetrance range. In clinical...

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Identifiers

PMID: 42202221
DOI: 10.1177/18796397261443135
PMCID: PMC13400817

Genes

HTT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 26 Oct 2026.

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