UBE3A基因新发变异致Angelman综合征1例并文献复习

Angelman syndrome caused by a novel mutation of UBE3A gene:a case report and literature review

目的提高对Angelman综合征(AS)临床表型及基因型的认识。方法回顾性分析2018年5月新乡医学院第一附属医院小儿康复科收治的1例AS患儿的临床资料,并复习相关文献。结果女童,2岁,发现不会独走半年余。查体:头围小,不能言语,步态不稳及双足尖足,发育商19分,大运动评分10分,语言评分7分。全外显子测序发现UBE3A基因的c.580G>T杂合无义变异,该变异导致第194号氨基酸Glu变为终止(p.Glu194Stop,682),为无义变异,使该蛋白缺失了682个氨基酸。家系验证显示c.580G>T为新生变异,父母均为野生型。结论发现导致AS的新UBE3A基因c.580G>T杂合无义变异。

Objective To improve the recognition of clinical phenotype and genotype of Angelman syndrome(AS).Methods The clinical data of a child with AS in Department of Pediatric Rehabilitation,the First Affiliated Hospital of Xinxiang Medical University at May 2018 was analyzed,retrospectively.Results One 2-year-old female child could not walk alone for more than half a year.The physical examination proved that her head circumference was small,speech was unable,gait was unstable and the toes and feet were pointed.The developmental quotient was 19 points;the motor score was 10 points and the language score was 7 points.The c.580G>T heterozygous nonsense variation of UBE3A gene was discovered through whole exon sequencing.This mutation resulted in the termination of amino acid 194 Glu(p.Glu194Stop,682),which was nonsense variation,making the protein lose 682 amino acids.Family verification proved that c.580G>T was a novel variant,and both parents were wild type.Conclusion It is obvious that the heterozygous nonsense mutation of UBE3A gene c.580G>T is a new cause of AS.