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

Authors
Park, Jong EunNoh, Seung-JaeOh, MijinCho, Dae-YeonKim, So YoungKi, Chang-Seok
Issue Date
Mar-2018
Publisher
BIOMED CENTRAL LTD
Keywords
Hereditary neuropathy with liability to pressure palsies (HNPP); Prevalence; Korean population; Next-generation sequencing-based copy number variation analysis
Citation
ORPHANET JOURNAL OF RARE DISEASES, v.13, no.1, pp.1 - 4
Indexed
SCIE
SCOPUS
Journal Title
ORPHANET JOURNAL OF RARE DISEASES
Volume
13
Number
1
Start Page
1
End Page
4
URI
https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/190965
DOI
10.1186/s13023-018-0779-5
ISSN
1750-1172
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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