ArticleOrphanet journal of rare diseases2018
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Advances in PMP22 sequence variant-associated hereditary neuropathy with liability to pressure palsies: from gene dosage effects to mechanism-informed variant interpretation.Frontiers in neurology · 2026Review
- Inherited Peripheral Neuropathies.Neurologic clinics · 2025Review
- Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment.Frontiers in genetics · 2025Article
- Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.Journal of neurology · 2024Review
- Anesthetic Considerations for Patients with Hereditary Neuropathy with Liability to Pressure Palsies: A Narrative Review.Healthcare (Basel, Switzerland) · 2024Review
- Review
- Prevalence of Neuromuscular Diseases in Young South Korean Males; A Korean Military Manpower Administration and Medical Command Data-Based Study.Journal of clinical neurology (Seoul, Korea) · 2023Article
- Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report.Heliyon · 2023Article
- Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment.Frontiers in neurology · 2023Article
- Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barré Syndrome: A case report.Medicine · 2022Article
- Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department.Yeungnam University journal of medicine · 2020Article
- Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study.BMJ open · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder mainly due to a deletion of chromosome 17p11.2 including PMP22 (PMP22 Del HNPP). The prevalence of HNPP is estimated to be 0.84 to 16 per 100,000, but could be underestimated because of the mild symptoms of HNPP. In this study, we estimated the prevalence of PMP22 Del HNPP in a Korean newborn population who underwent next-generation sequencing (NGS)-based copy number variation (CNV) analysis. Of the 11,885 newborns tested by NGS-based CNV analysis, 17p11.2 deletions were found in seven samples. The prevalence of PMP22 Del HNPP was estimated to be 58.9 per 100,000 (95% confidence interval (CI), 25.8-116.5) or 1 in 1698 (95% CI, 1/909-1/5000). Our data suggest that PMP22 Del HNPP might not be uncommon at least in the Korean population.
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