The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing

作者全名："Zhang, Wen; Li, Dong; Pang, Nan; Jiang, Li; Li, Baomin; Ye, Fanghua; He, Fang; Chen, Shimeng; Liu, Fangyun; Peng, Jing; Yin, Jinghua; Yin, Fei"

作者地址："[Zhang, Wen; Li, Dong; Pang, Nan; Ye, Fanghua; He, Fang; Chen, Shimeng; Liu, Fangyun; Peng, Jing; Yin, Fei] Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China; [Zhang, Wen; Li, Dong; Pang, Nan; He, Fang; Chen, Shimeng; Liu, Fangyun; Peng, Jing; Yin, Fei] Hunan Intellectual & Dev Disabil Res Ctr, Pediat, Changsha, Peoples R China; [Zhang, Wen; Li, Dong; Pang, Nan; He, Fang; Chen, Shimeng; Liu, Fangyun; Peng, Jing; Yin, Fei] Cent South Univ, Xiangya Hosp, Clin Res Ctr Children Neurodev Disabil Hunan Prov, Changsha, Peoples R China; [Jiang, Li] Chongqing Med Univ, Childrens Hosp, Dept Neurol, Chongqing, Peoples R China; [Li, Baomin] Qilu Hosp Shandong Univ, Dept Pediat, Jinan, Peoples R China; [Yin, Jinghua] Cent South Univ, Xiangya Hosp, Dept Pathophysiol, Changsha, Peoples R China"

通信作者："Yin, F (通讯作者)，Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China.; Yin, F (通讯作者)，Hunan Intellectual & Dev Disabil Res Ctr, Pediat, Changsha, Peoples R China.; Yin, F (通讯作者)，Cent South Univ, Xiangya Hosp, Clin Res Ctr Children Neurodev Disabil Hunan Prov, Changsha, Peoples R China.; Yin, JH (通讯作者)，Cent South Univ, Xiangya Hosp, Dept Pathophysiol, Changsha, Peoples R China."

来源：FRONTIERS IN PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000836944700001

JCR分区：Q1

影响因子：2.6

年份：2022

卷号：10

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：fragile X syndrome; intellectual disability; global developmental delay; neurodevelopmental; genetic testing

摘要："ObjectiveAlthough many unexplained intellectual disability/global developmental delay (ID/GDD) individuals have benefited from the excellent detection yield of copy number variations and next-generation sequencing testing, many individuals still who suffer from ID/GDD of unexplained etiology. In this study, we investigated the applicability of fragile X syndrome (FXS) testing in unexplained ID/GDD individuals with negative or absent genetic testing. MethodsIn this study, we used the triplet repeat primed polymerase chain reaction to evaluate the value and application of fragile X testing in unexplained ID/GDD individuals with negative or absent genetic testing (n = 681) from three hospitals. ResultsOf the 681 ID/GDD individuals with negative or absent genetic testing results detected by FXS testing, 12 men and one woman were positive. This corresponded to a diagnostic yield of 1.9% for FXS testing in our cohort. All FXS individuals had either a family history of ID/GDD or suggestive clinical features. The detection yield of FXS testing in ID/GDD individuals who completed genetic testing (2.70%, 12/438) was significantly higher than in individuals without any genetic testing (0.40%, 1/243). ConclusionsThis is the first report of FXS testing in ID/GDD individuals who lacked previous genetic testing, which promotes standardization of the FXS diagnostic process. These results highlight the utility of FXS testing of unexplained ID/GDD individuals with negative results from standard genetic testing. In the era of next-generation sequencing, FXS testing is more suitable as a second-tier choice and provides clinicians and geneticists with auxiliary references for tracing the etiology of ID/GDD."

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