Gao Min, Xing Mengjuan, Zhang Kaihui, Lyu Yuqiang, Ma Jian, Gai Zhongtao, Liu Yi
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):736-738. doi: 10.3760/cma.j.issn.1003-9406.2020.07.008.
To explore the genetic basis of a Chinese patient featuring global developmental delay.
Peripheral venous blood samples from the proband and his parents and sister were taken for the extraction of DNA. Target capture and next generation sequencing was carried out to detect genetic variants associated with the disease. Suspected variant was validated by Sanger sequencing.
Genetic testing discovered that the proband has carried hemizygous c.150G>T and c.150+1G>T variants of the KDM5C gene which are inherited from his mother. His younger sister also carried the variants. The c.150+1G>A variant was unreported previously, which has altered a splice site and was predicted to be pathogenic by bioinformatics analysis.
The hemizygous c.150+1G>T variant of the KDM5C gene, known to underlie X-linked Claes-Jensen type syndromic mental retardation, probably accounts for the disorder in the patient. Identification of this variant has enriched the variant spectrum of the KDM5C gene.
探究一名患有全面发育迟缓的中国患者的遗传基础。
采集先证者及其父母和妹妹的外周静脉血样本以提取DNA。进行靶向捕获和二代测序以检测与该疾病相关的基因变异。通过桑格测序验证疑似变异。
基因检测发现先证者携带从其母亲遗传而来的KDM5C基因半合子c.150G>T和c.150+1G>T变异。他的妹妹也携带这些变异。c.150+1G>A变异此前未被报道，该变异改变了一个剪接位点，经生物信息学分析预测为致病变异。
已知KDM5C基因的半合子c.150+1G>T变异是X连锁Claes-Jensen型综合征性智力障碍的病因，可能是该患者疾病的病因。该变异的鉴定丰富了KDM5C基因的变异谱。
