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Article

Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.

American journal of medical genetics. Part A - 1 Feb 2021

Magri Stefania, Nanetti Lorenzo, Mongelli Alessia, Rizzo Elena, Taroni Franco, Mariotti Caterina, Gellera Cinzia

Abstract excerpt

Huntington disease (HD) is an autosomal dominant disease characterized by motor, behavioral, and cognitive symptoms, caused by the pathological expansion of more than 35 CAG/CAA repeats in the HTT gene. We describe the phenotype of a patient compatible with HD. Several family members were reported as affected, and a paternal cousin and his daughter carried 39 and 42 CAG/CAA. HD genetic testing in proband showed...

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PMID: 33247537
DOI: 10.1002/ajmg.a.61973

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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