[一个患有E2型短指症和肥胖症的家系的突变分析]
[Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity].
作者信息
Fu Dongxia, Wang Huizhen, Zhang Yingxian, Chen Yongxing, Wei Haiyan, Tan Qianqian, Zhou Yong
机构信息
Department of Endocrinology and Inborn Error of Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):257-259. doi: 10.3760/cma.j.issn.1003-9406.2019.03.016.
OBJECTIVE
To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity.
METHODS
Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results.
RESULTS
NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation.
CONCLUSION
A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.
目的
在一个患有短指症和肥胖症的家系中鉴定致病突变。
方法
采集外周血样本以提取基因组DNA。进行外显子捕获结合下一代测序（NGS）以鉴定潜在突变。使用桑格测序法验证结果。
结果
NGS在甲状旁腺激素样蛋白（PTHLH）基因的第1外显子中鉴定出一种新的杂合错义突变（c.125A>C，p.Gln42Pro）。结果经桑格测序验证。该突变来自他的母亲。他的叔叔和姐姐也携带相同的杂合突变。
结论
在一个患有E2型短指症和肥胖症的家系中鉴定出PTHLH基因的一种新突变。
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