Angelman syndrome caused by a novel mutation of UBE3A gene: a case report and literature review / 中华实用儿科临床杂志

ABSTRACT

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.