Mutations of ARX and non-syndromic intellectual disability in Chinese population
| العنوان: | Mutations of ARX and non-syndromic intellectual disability in Chinese population |
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| المؤلفون: | Zhangyan Shi, Xiaocai Gao, Xiaoyong Jie, Huan Zhang, Junlin Li, Yufei Wu, Hongling Li, Shaoping Huang, Fuchang Zhang, Kejin Zhang, Zhibin Wang, Xiaofen Liu |
| المصدر: | Genes & Genomics. 41:125-131 |
| بيانات النشر: | Springer Science and Business Media LLC, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Male, 0106 biological sciences, 0301 basic medicine, China, Adolescent, Genetic counseling, Biology, 01 natural sciences, Biochemistry, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Disease-causing Mutation, Molecular Biology, Gene, Homeodomain Proteins, Chinese population, Polymorphism, Genetic, medicine.disease, Human genetics, 030104 developmental biology, Mutation, dup, Etiology, Female, Transcription Factors, 010606 plant biology & botany |
| الوصف: | 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. |
| تدمد: | 2092-9293 1976-9571 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d767f27fe19603a0781d9a11a17faa1c https://doi.org/10.1007/s13258-018-0745-6 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....d767f27fe19603a0781d9a11a17faa1c |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 20929293 19769571 |
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