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Mental retardation,seizures and language delay caused by new setd1b mutations:Three case reports

World Journal of Clinical Cases 2024年第2期12卷 383-391页

作者： Le Ding Li-Wan Wei Tai-Song Li Jing Chen Department of Neurology Children’s Hospital of Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina Chigene(beijing)Translational Medical Research Center Co.Ltd.Beijing 101111China

bACKGROUND The setd1b gene is instrumental in human intelligence and nerve *** in the setd1b gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language *** SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the setd1b *** individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were *** article discusses the impact of the setd1b gene mutation on patients and outlines the treatment *** the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had *** treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat *** exome sequencing revealed new mutations in the setd1b gene for all patients,specifically with c.5473C>T(***1825trp),c.4120C>T(***1374*,593),c.14_15insC(***5Hisfs*33).CONCLUSION Possessing the setd1b gene mutation may cause mental retardation accompanied by seizures and language *** the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of ***,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.

关键词： Neurodevelopmental disorder Seizure setd1b gene Whole-exome sequencing New mutation Case report

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