[一个患有小眼症的中国家系的全外显子组测序分析及产前诊断]
[Whole exome sequencing analysis and prenatal diagnosis for a Chinese pedigree affected with microphthalmia].
作者信息
Zhang Qin, Xiang Jingjing, Yang Fei, Zhang Wei, Mao Jun, Liu Yinghua, Li Hong
机构信息
Reproduction and Genetics Center, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu 215002, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):56-58. doi: 10.3760/cma.j.cn511374-20190829-00438.
OBJECTIVE
To analyze clinical features and genetic cause for a Chinese pedigree affected with microphthalmia.
METHODS
The proband and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Sanger sequencing was carried out to confirm the result of WES in available members from the pedigree. Prenatal diagnosis was provided to the proband's mother by genetic testing of amnionic DNA.
RESULTS
A heterozygous nonsense mutation c.289C>T (p.R97*) was identified in the OTX2 gene among three patients from the pedigree by WES. The result was confirmed by Sanger sequencing. The proband's mother has carried the same mutation but did not have microphthalmia. The proband's father, aunt and the mother's fetus did not carry the mutation.
CONCLUSION
The c.289C>T (p.R97*) mutation probably underlies the microphthalmia in this pedigree. Above result has facilitated genetic counseling and prenatal diagnosis.
目的
分析一个患有小眼症的中国家系的临床特征及遗传病因。
方法
对先证者及其父母进行全外显子组测序（WES）以鉴定潜在的致病变异。对该家系中可获得样本的成员进行桑格测序以确认WES结果。通过羊膜DNA基因检测为先证者母亲提供产前诊断。
结果
通过WES在家系中的三名患者中鉴定出OTX2基因的一个杂合无义突变c.289C>T（p.R97*）。该结果经桑格测序证实。先证者母亲携带相同突变但未患小眼症。先证者父亲、姑姑及母亲腹中胎儿未携带该突变。
结论
c.289C>T（p.R97*）突变可能是该家系小眼症的病因。上述结果有助于遗传咨询和产前诊断。
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