ArticleAmerican journal of medical genetics. Part A2009
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Evidence for penetrance in patients without a family history of disease: a systematic review.European journal of human genetics : EJHG · 2020Pooled it
- EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.European journal of human genetics : EJHG · 2013Guideline
- Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.PloS one · 2012Trial
- Huntington disease: somatic expansion, pathobiology and therapeutics.Nature reviews. Neurology · 2026Review
- Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.Human molecular genetics · 2021Article
- Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease.Journal of Huntington's disease · 2021Review
- Clinical and Genetic Profiles in Chinese Patients with Huntington's Disease: A Ten-year Multicenter Study in China.Aging and disease · 2019Article
- Neurotheranostics as personalized medicines.Advanced drug delivery reviews · 2019Review
- Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice.Genetics · 2017Article
- Huntington's Disease: Relationship Between Phenotype and Genotype.Molecular neurobiology · 2017Review
- Comparative analysis of anti-polyglutamine Fab crystals grown on Earth and in microgravity.Acta crystallographica. Section F, Structural biology communications · 2016Article
- Anti-PolyQ Antibodies Recognize a Short PolyQ Stretch in Both Normal and Mutant Huntingtin Exon 1.Journal of molecular biology · 2015Article
- Current Status of Huntington's Disease in Korea: A Nationwide Survey and National Registry Analysis.Journal of movement disorders · 2015Article
- Motor-Language Coupling in Huntington's Disease Families.Frontiers in aging neuroscience · 2014Article
- Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.Human molecular genetics · 2013Article
- Therapeutic approaches to preventing cell death in Huntington disease.Progress in neurobiology · 2012Review
- C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.Neurology · 2012Article
- Intermediate CAG Repeats in Huntington's Disease: Analysis of COHORT.Tremor and other hyperkinetic movements (New York, N.Y.) · 2012Article
- HD CAG-correlated gene expression changes support a simple dominant gain of function.Human molecular genetics · 2011Article
- Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.The Journal of biological chemistry · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Huntington disease (HD) is a dominantly transmitted neurodegenerative disorder that arises from expansion of a CAG trinucleotide repeat on chromosome 4p16.3. CAG repeat allele lengths are defined as fully penetrant at >or=40, reduced penetrance at 36-39, high normal at 27-35, and normal at <or=26. Fathers, but not mothers, with high normal alleles are at risk of transmitting potentially penetrant HD alleles (>or=36) to offspring. We estimated the conditional probability of an offspring inheriting an expanded penetrant allele given a father with a high normal allele by applying probability definitions and rules to estimates of HD incidence, paternal birth rate, frequency of de novo HD, and frequency of high normal alleles in the general population. The estimated probability that a male high normal allele carrier will have an offspring with an expanded penetrant allele ranges from 1/6,241 to 1/951. These estimates may be useful in genetic counseling for male high normal allele carriers.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.