PMID- 29544507
OWN - NLM
STAT- MEDLINE
DCOM- 20190314
LR  - 20221207
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 13
IP  - 1
DP  - 2018 Mar 15
TI  - Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due 
      to 17p11.2 deletion in a Korean newborn population.
PG  - 40
LID - 10.1186/s13023-018-0779-5 [doi]
LID - 40
AB  - 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.
FAU - Park, Jong Eun
AU  - Park JE
AD  - Department of Laboratory Medicine and Genetics, Samsung Medical Center, 
      Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
FAU - Noh, Seung-Jae
AU  - Noh SJ
AD  - LabGenomics Clinical Research Institute, LabGenomics, Seongnam, Gyeonggi-do, 
      Republic of Korea.
FAU - Oh, Mijin
AU  - Oh M
AD  - LabGenomics Clinical Research Institute, LabGenomics, Seongnam, Gyeonggi-do, 
      Republic of Korea.
FAU - Cho, Dae-Yeon
AU  - Cho DY
AD  - LabGenomics Clinical Research Institute, LabGenomics, Seongnam, Gyeonggi-do, 
      Republic of Korea.
FAU - Kim, So Young
AU  - Kim SY
AD  - LabGenomics Clinical Research Institute, LabGenomics, Seongnam, Gyeonggi-do, 
      Republic of Korea.
FAU - Ki, Chang-Seok
AU  - Ki CS
AD  - Department of Laboratory Medicine and Genetics, Samsung Medical Center, 
      Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. 
      changski@skku.edu.
LA  - eng
PT  - Letter
DEP - 20180315
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - Tomaculous neuropathy
SB  - IM
MH  - Arthrogryposis/epidemiology/*genetics
MH  - Asian People/*genetics
MH  - Gene Deletion
MH  - Hereditary Sensory and Motor Neuropathy/epidemiology/*genetics
MH  - Humans
MH  - Infant, Newborn
MH  - Myelin Proteins/*genetics
MH  - Republic of Korea/epidemiology
PMC - PMC5856277
OTO - NOTNLM
OT  - Hereditary neuropathy with liability to pressure palsies (HNPP)
OT  - Korean population
OT  - Next-generation sequencing-based copy number variation analysis
OT  - Prevalence
COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: The Institutional Review Board of the 
      LabGenomics Clinical Research Institute approved this study. CONSENT FOR 
      PUBLICATION: Written consent for publication was provided by the parents, whom we 
      would like thank for their help. COMPETING INTERESTS: The authors declare that 
      they have no competing interests. PUBLISHER'S NOTE: Springer Nature remains 
      neutral with regard to jurisdictional claims in published maps and institutional 
      affiliations.
EDAT- 2018/03/17 06:00
MHDA- 2019/03/15 06:00
PMCR- 2018/03/15
CRDT- 2018/03/17 06:00
PHST- 2017/09/20 00:00 [received]
PHST- 2018/02/23 00:00 [accepted]
PHST- 2018/03/17 06:00 [entrez]
PHST- 2018/03/17 06:00 [pubmed]
PHST- 2019/03/15 06:00 [medline]
PHST- 2018/03/15 00:00 [pmc-release]
AID - 10.1186/s13023-018-0779-5 [pii]
AID - 779 [pii]
AID - 10.1186/s13023-018-0779-5 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2018 Mar 15;13(1):40. doi: 10.1186/s13023-018-0779-5.