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

• Published in: Orphanet journal of rare diseases Vol. 13; no. 1; p. 40
• Main Authors: Park, Jong Eun, Noh, Seung-Jae, Oh, Mijin, Cho, Dae-Yeon, Kim, So Young, Ki, Chang-Seok
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 15.03.2018; BioMed Central; BMC
• Subjects: Analysis; Diagnosis; Genetic aspects; Health aspects; Hereditary neuropathy with liability to pressure palsies (HNPP); Korean population; Letter to the Editor; Newborn infants; Next-generation sequencing-based copy number variation analysis; Peripheral nervous system diseases; Prevalence; Signs and symptoms; Prevalence; Hereditary neuropathy with liability to pressure palsies (HNPP); Korean population; Next-generation sequencing-based copy number variation analysis
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-018-0779-5

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.