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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.

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