Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population | Orphanet Journal of Rare Diseases | Full Text

Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population

• Jong Eun Park,
• Seung-Jae Noh,
• Mijin Oh,
• Dae-Yeon Cho,
• So Young Kim and
• Chang-Seok KiEmail author

Orphanet Journal of Rare Diseases201813:40

https://doi.org/10.1186/s13023-018-0779-5

©  The Author(s). 2018

Received: 20 September 2017

Accepted: 23 February 2018

Published: 15 March 2018

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.

Keywords

Hereditary neuropathy with liability to pressure palsies (HNPP)PrevalenceKorean populationNext-generation sequencing-based copy number variation analysis