[一个因EYA1基因无义变异而患鳃耳综合征的中国家系的遗传学分析]
[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].
作者信息
Han Rui, Liu Xiaoran, Ye Erdengqieqieke, Wu Shuang, Zhao Jing, Duan Ling, Xia Yan, Ding Jianbing
机构信息
Department of Prenatal Diagnosis, the First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):374-377. doi: 10.3760/cma.j.cn511374-20201210-00866.
OBJECTIVE
To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS).
METHODS
The proband was subjected to target-capture high-throughput sequencing to detect potential variant of deafness-associated genes. Candidate variants were verified by Sanger sequencing of the family members.
RESULTS
The proband was found to harbor a c.1627C>T (p.Gln543Ter) nonsense variant of the EYA1 gene. Sanger sequencing confirmed that all of the 4 patients with the BOS phenotype from the pedigree have harbored the same heterozygous variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS+PP3+PP4).
CONCLUSION
The c.1627C>T (p.Gln543Ter) variant of the EYA1 gene probably underlay the BOS phenotype in this pedigree. Above finding has provided a basis for its clinical diagnosis.
目的
分析一个疑似鳃耳综合征（BOS）的中国家系的临床表型和遗传基础。
方法
对先证者进行靶向捕获高通量测序，以检测耳聋相关基因的潜在变异。通过对家系成员进行Sanger测序验证候选变异。
结果
发现先证者携带EYA1基因的c.1627C>T（p.Gln543Ter）无义变异。Sanger测序证实，该家系中所有4例具有BOS表型的患者均携带相同的杂合变异。根据美国医学遗传学与基因组学学会的指南，该变异被预测为致病性变异（PVS1+PS+PP3+PP4）。
结论
EYA1基因的c.1627C>T（p.Gln543Ter）变异可能是该家系BOS表型的潜在原因。上述发现为其临床诊断提供了依据。
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