Abstract：
OBJECTIVE: To explore the clinical and genetic characteristics of a child with mental retardation, language and motor developmental delay and epilepsy.
METHODS: A child who was admitted to the First Affiliated Hospital of Zhengzhou University in March 2020 for intermittent seizures for over two months was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to high throughput sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.
RESULTS: The clinical manifestations of the child have included mental retardation, language and motor developmental delay, and seizures. High-throughput sequencing revealed that he has harbored a hemizygous splice site variant (NM_032591.3: c.1030-1G>C) of the SLC9A7 gene, which was inherited from his mother and unreported previously.
CONCLUSIONS: The hemizygous splice site variant (NM_032591.3: c.1030-1G>C) of the SLC9A7 gene probably underlay the disease in this child. Above finding has provided a basis for clinical diagnosis and genetic counseling.
METHODS: A child who was admitted to the First Affiliated Hospital of Zhengzhou University in March 2020 for intermittent seizures for over two months was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to high throughput sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.
RESULTS: The clinical manifestations of the child have included mental retardation, language and motor developmental delay, and seizures. High-throughput sequencing revealed that he has harbored a hemizygous splice site variant (NM_032591.3: c.1030-1G>C) of the SLC9A7 gene, which was inherited from his mother and unreported previously.
CONCLUSIONS: The hemizygous splice site variant (NM_032591.3: c.1030-1G>C) of the SLC9A7 gene probably underlay the disease in this child. Above finding has provided a basis for clinical diagnosis and genetic counseling.
摘要：
目的：探讨1例智力低下患儿的临床及遗传特点，语言和运动发育迟缓和癫痫。
方法：选择2020年3月郑州大学第一附属医院因间歇性癫痫发作2个月以上患儿作为研究对象。收集患儿的临床资料。收集儿童及其父母的外周血样品并进行高通量测序。通过Sanger测序和生物信息学分析验证候选变体。
结果：患儿的临床表现包括智力低下，语言和运动发育迟缓，和癫痫发作。高通量测序显示，他拥有SLC9A7基因的半合子剪接位点变体（NM_032591.3：c.1030-1G>C），这是从他母亲那里继承的，以前没有报道过。
结论：SLC9A7基因的半合子剪接位点变异（NM_032591.3：c.1030-1G>C）可能是该儿童疾病的基础。以上发现为临床诊断和遗传咨询提供了依据。
方法：选择2020年3月郑州大学第一附属医院因间歇性癫痫发作2个月以上患儿作为研究对象。收集患儿的临床资料。收集儿童及其父母的外周血样品并进行高通量测序。通过Sanger测序和生物信息学分析验证候选变体。
结果：患儿的临床表现包括智力低下，语言和运动发育迟缓，和癫痫发作。高通量测序显示，他拥有SLC9A7基因的半合子剪接位点变体（NM_032591.3：c.1030-1G>C），这是从他母亲那里继承的，以前没有报道过。
结论：SLC9A7基因的半合子剪接位点变异（NM_032591.3：c.1030-1G>C）可能是该儿童疾病的基础。以上发现为临床诊断和遗传咨询提供了依据。
