Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome.
10.3760/cma.j.issn.1003-9406.2019.08.011
- Author:
Nan SHEN
1
;
Yi LIU
;
Kaihui ZHANG
;
Yuqiang LYU
;
Min GAO
;
Jian MA
;
Ling XU
;
Zhongtao GAI
Author Information
1. School of Medicine and Life Sciences, University of Ji' nan -Shandong Academy of Medical Sciences, Jinan, Shandong 250022, China. gaizhongtao@sina.com.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
China;
Coffin-Lowry Syndrome;
genetics;
Humans;
Mutation;
Pedigree;
Ribosomal Protein S6 Kinases, 90-kDa;
genetics;
Sequence Deletion
- From:
Chinese Journal of Medical Genetics
2019;36(8):798-800
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome.
METHODS:Whole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing.
RESULTS:The proband was found to carry a c.966_967delAA (p.Arg323Thr fs*11) deletional mutation in the RPS6KA3 gene. The same mutation was also found in his mother.
CONCLUSION:The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.
