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Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort

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Abstract

Background

Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. The frequency of mutations in these genes in the Chinese population is unknown.

Methods

We obtained blood spots from the Guangxi Neonatal Screening Center in Nanning, China that included Han (n=443) and Zhuang (n=313) ethnic groups. We resequenced all exons of the surfactant proteins-B (SFTPB), -C (SFTPC), and the ATP-binding cassette member A3 (ABCA3) genes and compared the frequencies of 5 common and all rare variants.

Results

We found minor differences in the frequencies of the common variants in the Han and Zhuang cohorts. We did not find any rare mutations in SFTPB or SFTPC, but we found three ABCA3 mutations in the Han [minor allele frequency (MAF)=0.003] and 7 in the Zhuang (MAF=0.011) cohorts (P=0.10). The ABCA3 mutations were unique to each cohort; five were novel. The collapsed carrier rate of rare ABCA3 mutations in the Han and Zhuang populations combined was 1.3%, which is significantly lower than that in the United States (P<0.001).

Conclusion

The population-based frequency of mutations in ABCA3 in south China newborns is significantly lower than that in United States. The contribution of these rare ABCA3 mutations to disease burden in the south China population is still unknown.

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Authors and Affiliations

  1. Division of Neonatology, Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning, China

    Yu-Jun Chen

  2. Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA

    Yu-Jun Chen, Jennifer Anne Wambach, Kelcey DePass, Daniel James Wegner, Hillary Heins, Francis Sessions Cole & Aaron Hamvas

  3. Department of Pediatrics, Guangxi Maternal and Child Health Hospital, Nanning, China

    Shao-Ke Chen

  4. Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, USA

    Qun-Yuan Zhang

  5. Division of Neonatology, Ann and Robert H. Lurie Children’s Hospital, 225 E. Chicago Ave, Box No. 45, Chicago, IL, 60611, USA

    Aaron Hamvas

Authors
  1. Yu-Jun Chen
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  2. Jennifer Anne Wambach
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  3. Kelcey DePass
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  4. Daniel James Wegner
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  5. Shao-Ke Chen
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  6. Qun-Yuan Zhang
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  7. Hillary Heins
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  8. Francis Sessions Cole
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  9. Aaron Hamvas
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Correspondence to Aaron Hamvas.

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Chen, YJ., Wambach, J.A., DePass, K. et al. Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. World J Pediatr 12, 190–195 (2016). https://doi.org/10.1007/s12519-015-0047-x

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  • DOI: https://doi.org/10.1007/s12519-015-0047-x

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