Zhang Guangyu, Wang Mingmei, Chen Gongxun, Yang Lei, Li Sansong, Zhu Dengna
Department of Pediatric Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jul 10;40(7):838-841. doi: 10.3760/cma.j.cn511374-20220520-00339.
To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.
A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.
Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4).
The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.
探究一名患有癫痫、共济失调、感音神经性耳聋和智力残疾的EAST/SeSAME综合征患儿的遗传基础。
选取一名于2021年1月在郑州大学第三附属医院就诊的EAST/SeSAME综合征患儿作为研究对象。采集患儿及其父母的外周血样本，进行全外显子组测序。候选变异通过桑格测序进行验证。
基因检测显示，该患儿携带KCNJ10基因的复合杂合变异，即c.557T>C（p.Val186Ala）和c.386T>A（p.Ile129Asn），分别遗传自其母亲和父亲。根据美国医学遗传学与基因组学学会（ACMG）的指南，这两个变异均被预测为可能致病（PM1+PM2_Supporting+PP3+PP4；PM1+PM2_Supporting+PM3+PP3+PP4）。
该患者因KCNJ10基因的复合杂合变异被诊断为EAST/SeSAME综合征。
