PIGS基因突变所致的发育性癫痫性脑病家系的临床表现及遗传学分析

doi:10.20047/j.issn1673-7210.2023.23.20

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Abstract Objective To summarize and analyzes the clinical features and genetic variants of two children in a family with developmental and epileptic encephalopathy (DEE) induced by phosphatidylinositol glycan anchor biosynthesis, class S (PIGS) gene mutation. Methods Clinical data and family history of two patients visited the outpatient of the Affiliated Hospital of Guangdong Medical University due to “recurrent seizures” from 2021 to 2022 were collected, peripheral blood samples of patients and family members were extracted. Whole exome sequencing and Sanger sequencing were carried out to detect the potential mutation. Results Case 1, female, sister (witness), 8 years old, case 2 female, sister, 6 years old, all of them were infantile onset, presented with frequent generalized tonic-clonic seizures, accompanied by severe developmental lag, physical examination found special facial features (arched eyebrow, almond eyes, wide eye distance, low nose bridge, long middle, wide tongue) and hypotonia, abnormal video EEG and skull magnetic resonance imaging results. All genetic tests indicated homozygous mutation of PIGS gene c.1141_1164dup (P.SP381_val388dUP), and Sanger verified that the parents were heterozygous mutations. Combined with the clinical phenotype and genetic detection results, 2 cases were confirmed as DEE-95 (PIGS gene mutation). Convulsions improved after treatment with vitamin B6 and antiepileptic combination. Conclusion Homozygous mutation of PIGS gene is the cause of DEE95. Whole exome sequencing is of great value for the diagnosis of DEE-95. Most of the patients need combination therapy, which is effective with the addition of vitamin B6.

Key words： Developmental and epileptic encephalopathy 95 Phosphatidylinositol glycan anchor biosynthesis class S gene Refractory epilepsy Severe developmental retardation

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	CHEN Chaohong WANG You LI Chengyan LIU Ling AO Dang▲

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CHEN Chaohong WANG You LI Chengyan LIU Ling AO Dang▲. Analysis of clinical features and genetic variants in a family with developmental and epileptic encephalopathy induced by PIGS gene mutation[J]. 中国医药导报, 2023, 20(23): 94-98.

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https://www.yiyaodaobao.com.cn/EN/10.20047/j.issn1673-7210.2023.23.20 OR https://www.yiyaodaobao.com.cn/EN/Y2023/V20/I23/94

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