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Current Medical Science

, Volume 38, Issue 6, pp 989–996 | Cite as

Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family

  • Wei Su
  • Ruo-chen Wang
  • Mahesh Kumar Lohano
  • Li Wang
  • Peng Zhu
  • Yue Luo
  • Li-juan Guo
  • Qing Lv
  • Hong Jiang
  • Jun-han Wang
  • Li Mei
  • Jun Weng
  • Li Su
  • Nian-guo Dong
Article

Summary

Atrial septal defect (ASD) is a common acyanotic congenital cardiac disorder associated with genetic mutations. The objective of this study was to identify the genetic factors in a Chinese family with ASD patients by a whole exome sequencing approach. Causative ASD gene mutations were examined in 16 members from a three-generation family, among which 6 individuals were diagnosed as having ASD. One hundred and eighty-three unrelated healthy Chinese were recruited as a normal control group. Peripheral venous blood was collected from every subject for genetic analysis. Exome sequencing was performed in the ASD patients. Potential causal mutations were detected in non-ASD family members and normal controls by polymerase chain reaction and sequencing analysis. The results showed that all affected family members carried two novel compound mutations, c.1187delT of PCDHGA4 and c.2557insC of SLFN14, and these two mutations were considered to have synergetic function on ASD. In conclusion, the mutations of c.1187delT of PCDHGA4 and c.2557insC of SLFN14 may be pathogenic factors contributing to the development of ASD.

Key words

congenital heart disease atrial septal defect mutation PCDHGA4 SLFN14 

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Notes

Acknowledgement

The authors are thankful to all the family members for their participation in the study.

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Copyright information

© Huazhong University of Science and Technology 2018

Authors and Affiliations

  • Wei Su
    • 1
  • Ruo-chen Wang
    • 2
  • Mahesh Kumar Lohano
    • 2
  • Li Wang
    • 3
  • Peng Zhu
    • 1
  • Yue Luo
    • 2
  • Li-juan Guo
    • 2
  • Qing Lv
    • 4
  • Hong Jiang
    • 3
  • Jun-han Wang
    • 3
  • Li Mei
    • 1
  • Jun Weng
    • 2
  • Li Su
    • 2
  • Nian-guo Dong
    • 1
  1. 1.Department of Cardiovascular Surgery, Union Hospital, Tongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina
  2. 2.Key Laboratory of Molecular Biophysics of Ministry of EducationCollege of Life Science and TechnologyWuhanChina
  3. 3.Department of Internal MedicineAffiliated Hospital of Huazhong University of Science and TechnologyWuhanChina
  4. 4.Department of Ultrasonography, Union Hospital, Tongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina

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