Genes & Genomics

, Volume 41, Issue 1, pp 125–131 | Cite as

Mutations of ARX and non-syndromic intellectual disability in Chinese population

  • Yufei Wu
  • Huan Zhang
  • Xiaofen Liu
  • Zhangyan Shi
  • Hongling Li
  • Zhibin Wang
  • Xiaoyong Jie
  • Shaoping Huang
  • Fuchang Zhang
  • Junlin Li
  • Kejin ZhangEmail author
  • Xiaocai GaoEmail author
Research Article


Mutations of Aristaless-related homeobox (ARX) gene were looked as the third cause of non-syndromic intellectual disability (NSID), while the boundary between true disease-causing mutations and non-disease-causing variants within this gene remains elusive. To investigate the relationship between ARX mutations and NSID, a panel comprising six reported causal mutations of the ARX was detected in 369 sporadic NSID patients and 550 random participants in Chinese. Two mutations, c.428_451 dup and p.G286S, may be disease-causing mutations for NSID, while p.Q163R and p.P353L showed a great predictive value in female NSID diagnosis with significant associations (X2 = 19.60, p = 9.54e−6 for p.Q163R; X2 = 25.70, p = 4.00e−07 for p.P353L), carriers of these mutations had an increased risk of NSID of more than fourfold. Detection of this panel also predicted significant associations between genetic variants of the ARX gene and NSID (p = 3.73e−4). The present study emphasized the higher genetic burden of the ARX gene on NSID in the Chinese population, molecular analysis of this gene should be considered for patients presenting NSID of unknown etiology.


Non-syndromic intellectual disability Aristaless-related homeobox (ARX) Disease-causing mutation Genetic counseling 



We are grateful to all participants and our clinical collaborators for subject recruitment, evaluation and mutation scanning. This study was supported by grants from the Natural Science Foundation of China (No. 31371237) to Junlin Li, (No. 31340028), Kejin Zhang, and (No. 31100899) Zhangyan Shi. The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Author contributions

KJZ and XCG conceived and designed the experiments; HZ, XYJ, FCZ and SPH investigated, recruited and evaluated the patients and random sample; ZYS, YFW performed the experiments; KJZ and XCG analyzed the data; XFL, YFW and ZBW wrote the paper.

Compliance with ethical standards

Conflict of interest

Wu YF, Liu XF, Zhang H, Shi ZY, Li HL, Wang ZB, Jie XY, Huang SP, Zhang FC, Li JL, Zhagn KJ and Gao XC declare that they have no conflict to interest.

Ethical approval

This study had been approved by the Ethics Committee of Northwest University.

Informed consent

Written informed consent was obtained from all participants and/or their guardian in the study.


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Copyright information

© The Genetics Society of Korea and Springer Nature B.V. 2018

Authors and Affiliations

  1. 1.Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthNorthwest UniversityXi’anChina
  2. 2.College of Public Management, Institute of Application PsychologyNorthwest UniversityXi’anChina
  3. 3.The 2nd Affiliated HospitalXi’an Jiaotong UniversityXi’anChina
  4. 4.Xi’an Cangning Psychiatric HospitalXi’anChina

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