Article
Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.
Molecular genetics & genomic medicine - 1 Jun 2020
Gao Fei, Huang Wen, You Yanjun, Huang Jie, Zhao Juan, Xue Jin, Kang Huaixing, Zhu Yingbao, Hu Zhengmao, Allen Emily G, Jin Peng, Xia Kun, Duan Ranhui
Abstract excerpt
BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. When the number of repeats exceeds 200, the gene becomes hypermethylated and is transcriptionally silenced, resulting in FXS. Other allelic forms of the gene that are studied because of their instability or phenotypic consequence include...
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