Analysis of variants with unknown significance indicating 9p23 as a candidate locus for intellectual development impairment

doi:10.3969/j.issn.1673-8640.2014.11.007

›› 2014, Vol. 29 ›› Issue (11): 1107-1111.DOI: 10.3969/j.issn.1673-8640.2014.11.007

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Analysis of variants with unknown significance indicating 9p23 as a candidate locus for intellectual development impairment

LIU Hongjing¹, YAO Ru'en², YU Yongguo², SUN Fenyong¹

1. Department of Clinical Laboratory, the Tenth People's Hospital Affiliated to Tongji University, Shanghai 200072, China;
2. Pediatric Translational Medicine Research Institute, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China

Received:2014-04-18 Online:2014-11-01 Published:2014-11-28
Contact: 孙奋勇,联系电话:021-66306909。

Abstract

Abstract:

Objective　To find out copy number variants as candidate loci by analyzing variants with unknown significance (VUS) and phenotypes in chromosomal microarray analysis (CMA). Methods　The VUS and phenotypes in chromosomal microarray for 38 patients were analyzed statistically and classified into different groups (intellectual level, development level, facial abnormality and head circumference abnormality) to evaluate the relation between VUS and phenotypes. A total of 45 healthy controls were used in the study to validate polymorphism copy number variants. Results　Deletions on 9p23 region had significantly higher frequency in intellectual development impairment patients than patients with normal intellectual level with statistical significance (P<0.01), and 9p23 region change had not been detected in 45 healthy controls, indicating this locus to be related with children's intellectual development impairment. Conclusions　The analysis of VUS can offer the reference between phenotypes and copy number variants. The confirmation of VUS can help with enhancing the diagnostic ability of chromosomal microarray and find new pathogenic chromosomal locus.

Key words: Copy number variant, Intellectual development impairment, Chromosomal microarray analysis

CLC Number:

R446.1

LIU Hongjing, YAO Ru'en, YU Yongguo, SUN Fenyong. Analysis of variants with unknown significance indicating 9p23 as a candidate locus for intellectual development impairment[J]. , 2014, 29(11): 1107-1111.

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Analysis of variants with unknown significance indicating 9p23 as a candidate locus for intellectual development impairment

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