[1D/F型Usher综合征家系的基因诊断]
[Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F].
作者信息
Kang Hongfei, Zhao Kaihui, Kong Xiangdong
机构信息
Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):951-954. doi: 10.3760/cma.j.cn511374-20200729-00561.
OBJECTIVE
To explore the genetic basis for a pedigree affected with congenital sensorineural deafness.
METHODS
High-throughput sequencing was carried out to analyze the coding regions of 415 genes associated with hereditary deafness in the proband. Suspected variants were verified by PCR amplification and Sanger sequencing of her parents and sister.
RESULTS
The proband was found to have carried a heterozygous c.5131G>A (p.Val1711Ile) variant of the CDH23 gene and a heterozygous c.2884C>T(p.Arg962Cys) variant of the PCDH15 gene, which were respectively inherited from her mother and father. Her sister (with normal hearing) was also heterozygous for the c.5131G>A (p.Val1711Ile) variant of the CDH23 gene but not the c.2884C>T (p.Arg962Cys) variant of the PCDH15 gene. Based on the guidelines of the American College of Medical Genetics and Genomics, both variants were predicted to be likely pathogenic (PS1+PM2+PP3+PP4).
CONCLUSION
The c.5131G>A (p.Val1711Ile) variant of the CDH23 gene and c.2884C>T (p.Arg962Cys) variant of the PCDH15 gene probably underlay the pathogenesis of Usher syndrome type 1D/F in this pedigree.
目的
探究一个先天性感音神经性耳聋家系的遗传基础。
方法
对先证者中与遗传性耳聋相关的415个基因的编码区进行高通量测序。通过对其父母及妹妹进行PCR扩增和桑格测序来验证疑似变异。
结果
发现先证者携带CDH23基因的杂合c.5131G>A（p.Val1711Ile）变异和PCDH15基因的杂合c.2884C>T（p.Arg962Cys）变异，分别遗传自她的母亲和父亲。她的妹妹（听力正常）也携带CDH23基因的c.5131G>A（p.Val1711Ile）变异，但不携带PCDH15基因的c.2884C>T（p.Arg962Cys）变异。根据美国医学遗传学与基因组学学会的指南，这两个变异均被预测可能致病（PS1+PM2+PP3+PP4）。
结论
CDH23基因的c.5131G>A（p.Val1711Ile）变异和PCDH15基因的c.2884C>T（p.Arg962Cys）变异可能是该家系1D/F型Usher综合征发病机制的基础。
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