American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Bean, Lora Jh; Bayrak-Toydemir, Pınar

doi:10.1038/gim.2014.146

Cited by 48 publications

(46 citation statements)

References 38 publications

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“…The results were completely concordant with the verified allele sizes of all samples [3,4] (fig. 1).…”

Section: Resultssupporting

confidence: 75%

“…Allele calling was aided by a primer design feature which improved the detection of each allele's last amplicon peak, but without excessive overamplification, relative to the preceding amplicon peaks. All alleles ≤45 CAGs were sized precisely, while alleles >46 CAGs were sized to within ±1 repeat, conforming to established guidelines [4]. …”

Section: Resultsmentioning

confidence: 99%

“…HTT CAG repeats may expand rapidly in transmission and the largest reported allele is ∼250 CAG repeat [4]. As samples with such repeat size are extremely rare and are unavailable to us, we cannot be certain whether our new assay can successfully size such an allele.…”

Section: Discussionmentioning

confidence: 99%

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Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay

Zhao

Lee²,

Law³

et al. 2016

Neurodegener Dis

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Background: Accurate determination of the CAG repeat number is crucial for diagnostic and predictive testing for Huntington disease (HD). Current PCR-based assays can accurately size up to ∼110 HTT CAG repeats. Objective: To develop an improved assay capable of detecting larger CAG repeat expansions. Methods: A triplet-primed PCR (TP-PCR) assay was optimized and validated on 14 HD reference DNAs, including a sample carrying a large expansion of ∼180 CAG repeats. Results: All 14 HD reference samples showed 100% concordance with the previously verified allele sizes. For alleles under 45 CAGs, identical repeat sizes were obtained, while alleles larger than 46 CAGs were sized to within ±1 CAG. The improved TP-PCR assay successfully detected the ∼180 CAG repeat allele in an affected sample. Conclusion: This method extends the detection limit of large expanded alleles to at least ∼175-180 CAG repeats, thus reducing the likelihood of requiring Southern blot analysis for any HD-affected sample.

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“…The results were completely concordant with the verified allele sizes of all samples [3,4] (fig. 1).…”

Section: Resultssupporting

confidence: 75%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay

Zhao

Lee²,

Law³

et al. 2016

Neurodegener Dis

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“…A case of HD was defined as any individual carrying CAG expansion on the HTT gene and presenting onset with the unequivocal presence of an otherwise unexplained extrapyramidal movement disorder (i.e., chorea, dystonia, bradykinesia, rigidity) [3,19,20,21,22,23] with or without psychiatric signs or cognitive decline [23,24]. Juvenile HD (JHD; onset before age 21) and the rigid Westphal variant were also taken into consideration.…”

Section: Methodsmentioning

confidence: 99%

Epidemiological Study of Huntington's Disease in the Province of Ferrara, Italy

Carrassi

Pugliatti²,

Govoni³

et al. 2017

Neuroepidemiology

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Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of CAG triplet repeat. We aimed to reappraise HD epidemiology in a northern Italian population, in relation to introduction of genetic testing. Methods: Through ICD-9M code 333.4 and medical fare exemption code RF0080, HD cases were identified from administrative health data and medical records from the Units of Neurology and Genetics, Ferrara University Hospital, and from other provincial neurological structures. Results: HD mean annual incidence rate in 1990-2009 was 0.3 per 100,000 (95% CI 0.2-0.5). All incident cases were found to have symptoms of the disease's classic form, and neither juvenile nor the rigid Westphal variant was detected. The mean (SD) age at onset was 50.2 (12.7 years; range 32-82 years), 54.9 (14.6) for men and 45.8 (9.4) for women. On prevalence day, December 31, 2014, HD prevalence was 4.2 per 100,000 (95% CI 2.4-7.0), with a male:female ratio of 1:2. Conclusions: The prevalence and incidence of HD in our population were lower than the prevalence and incidence reported for other European and Italian populations, but higher compared to those of Asia, Africa, and Eastern Europe. Compared to previous studies, HD incidence and prevalence did not change significantly.

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“…CAG and CCG repeat sizes were determined as previously described 9 using fluorescently labelled primers flanking the CAG repeat (HD344F, 5′-HEX-CCTTCGAGTCCCTCAAGTCCTTC-3′ and HD450R, 5′-GGCGGCGGTGGC GGCTGTTG-3′), the CCG repeat (HD419F, 5′-AGCAGCAGCAGCAACAGCC -3′ and HD482R, 5′-6FAM-GGCTGAGGAAGCTGAGGAG-3′), and both CAG and CCG repeats (HD344F, 5′-HEX-CCTTCGAGTCCCTCAAGTCCTTC-3′ and HD482R, 5′-GGCTGAGGAAGCTGAGGAG-3′) following established HD diagnostic testing guidelines. 24 HTT SNP genotyping and haplotype reconstruction …”

Section: Cag and Ccg Repeat Sizingmentioning

confidence: 99%

The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America

Kay

Tirado-Hurtado²,

Cornejo‐Olivas³

et al. 2016

Eur J Hum Genet

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American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease

Cited by 48 publications

References 38 publications

Enhanced Detection and Sizing of the <b><i>HTT</i></b> CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay

Enhanced Detection and Sizing of the <b><i>HTT</i></b> CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay

Epidemiological Study of Huntington's Disease in the Province of Ferrara, Italy

The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America

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